CNGA3

Summary

Gene Symbol: CNGA3
Description: cyclic nucleotide gated channel alpha 3
Alias: ACHM2, CCNC1, CCNCa, CCNCalpha, CNCG3, CNG3, cyclic nucleotide-gated cation channel alpha-3, CNG channel alpha-3, CNG-3, cone photoreceptor cGMP-gated channel alpha subunit, cone photoreceptor cGMP-gated channel subunit alpha
Species: human
Products:     CNGA3

Top Publications

  1. Kohl S, Marx T, Giddings I, Jagle H, Jacobson S, Apfelstedt Sylla E, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998;19:257-9 pubmed
    ..2), however the gene underlying RM has not yet been identified. Recently, a suitable candidate gene, CNGA3, encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel, a key component of the ..
  2. Sundin O, Yang J, Li Y, Zhu D, Hurd J, Mitchell T, et al. Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet. 2000;25:289-93 pubmed
    ..3), where it is associated with missense mutations in CNGA3 (ref. 4)...
  3. Varsanyi B, Wissinger B, Kohl S, Koeppen K, Farkas A. Clinical and genetic features of Hungarian achromatopsia patients. Mol Vis. 2005;11:996-1001 pubmed
    ..To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients...
  4. Muraki Oda S, Toyoda F, Okada A, Tanabe S, Yamade S, Ueyama H, et al. Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel. Biochem Biophys Res Commun. 2007;362:88-93 pubmed
    Thirty-nine missense mutations, which had been identified in rod monochromacy or related disorders, in the CNGA3 subunit of cone photoreceptor cGMP-gated channels were analyzed...
  5. Wissinger B, Muller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp U, et al. Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors. Eur J Neurosci. 1997;9:2512-21 pubmed
    ..RT-PCR analysis gave no evidence for alternatively spliced transcripts. ..
  6. Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001;69:722-37 pubmed
    We recently showed that mutations in the CNGA3 gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11...
  7. Goto Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K. Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. Vis Neurosci. 2006;23:395-402 pubmed
    ..This disorder has been shown to be associated with CNGA3, CNGB3, and GNAT2 mutations, and the frequency of mutations in the CNGA3 gene (encoding alpha subunit of the cone-..
  8. Nishiguchi K, Sandberg M, Gorji N, Berson E, Dryja T. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005;25:248-58 pubmed
    ..known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel...
  9. Thiadens A, Roosing S, Collin R, van Moll Ramirez N, van Lith Verhoeven J, van Schooneveld M, et al. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010;117:825-30.e1 pubmed publisher
    To investigate whether the major achromatopsia genes (CNGA3 and CNGB3) play a role in the cause of progressive cone dystrophy (CD).

More Information

Publications84

  1. Johnson S, Michaelides M, Aligianis I, Ainsworth J, Mollon J, Maher E, et al. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet. 2004;41:e20 pubmed
  2. Faillace M, Bernabeu R, Korenbrot J. Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif. J Biol Chem. 2004;279:22643-53 pubmed
    ..Coexpression of cone CNG beta subunit (CNGB3) does not rescue the consequence of S4 mutations in CNGA3. It is likely that an intact S4 is required for proper protein folding and/or assembly in the endoplasmic ..
  3. Thiadens A, Slingerland N, Roosing S, van Schooneveld M, van Lith Verhoeven J, van Moll Ramirez N, et al. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology. 2009;116:1984-9.e1 pubmed publisher
    ..To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between disease-causing mutations, phenotype at diagnosis, and visual prognosis...
  4. Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Hum Mutat. 2008;29:1228-36 pubmed publisher
    b>CNGA3 encodes the A-subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel, which is a crucial component of the phototransduction cascade in cone outer segments...
  5. Tanimoto N, Sothilingam V, Gloeckner G, Bryda E, Humphries P, Biel M, et al. Auditory event-related signals in mouse ERG recordings. Doc Ophthalmol. 2014;128:25-32 pubmed publisher
    ..Wild-type mice (C57BL/6), mice with rod function only (Cnga3 (-/-)), mice lacking any photoreceptor function (Cnga3 (-/-) rho (-/-)), and mice with no auditory function (Cdh23 ..
  6. Tetreault M, Henry D, Horrigan D, Matthews G, Zimmerman A. Characterization of a novel cyclic nucleotide-gated channel from zebrafish brain. Biochem Biophys Res Commun. 2006;348:441-9 pubmed
    ..properties are distinct compared to CNG channels from either rods (CNGA1), olfactory receptors (CNGA2), or cones (CNGA3)...
  7. Ding X, Thapa A, Ma H, Xu J, Elliott M, Rodgers K, et al. The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility. J Biol Chem. 2016;291:8721-34 pubmed publisher
    ..Mutations in the cone channel subunits CNGA3 and CNGB3 are associated with human cone diseases, including achromatopsia, cone dystrophies, and early onset ..
  8. Sun W, Zhang Q. Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline. Prog Mol Biol Transl Sci. 2019;161:1-27 pubmed publisher
    Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations has made great progress...
  9. Kostic C, Crippa S, Martin C, Kardon R, Biel M, Arsenijevic Y, et al. Determination of Rod and Cone Influence to the Early and Late Dynamic of the Pupillary Light Response. Invest Ophthalmol Vis Sci. 2016;57:2501-8 pubmed publisher
    ..One-month-old wild type (WT), rodless (Rho-/-), coneless (Cnga3-/-), or photoreceptor less (Cnga3-/-; Rho-/- or Gnat1-/-) mice were subjected to brief red and blue light stimuli ..
  10. Bumbalo R, Lieber M, Schroeder L, Polat Y, Breer H, Fleischer J. Grueneberg Glomeruli in the Olfactory Bulb are Activated by Odorants and Cool Temperature. Cell Mol Neurobiol. 2017;37:729-742 pubmed publisher
    ..2,3-DMP-induced responses in these glomeruli were investigated in mice lacking the cyclic nucleotide-gated channel CNGA3 which is critical for chemo- and thermosensory signal transduction in Grueneberg ganglion neurons...
  11. Peters T, Seitz I, Michalakis S, Biel M, Wilhelm B, Reichel F, et al. Safety and toxicology of ocular gene therapy with recombinant AAV Vector rAAV.hCNGA3 in non-human primates. Hum Gene Ther Clin Dev. 2019;: pubmed publisher
    The purpose of this study was to examine the toxicity and side effects of a recombinant AAV8 vector, aimed to treat CNGA3-linked achromatopsia, after a single subretinal administration in cynomolgus macaques...
  12. Ma H, Butler M, Thapa A, Belcher J, Yang F, Baehr W, et al. cGMP/Protein Kinase G Signaling Suppresses Inositol 1,4,5-Trisphosphate Receptor Phosphorylation and Promotes Endoplasmic Reticulum Stress in Photoreceptors of Cyclic Nucleotide-gated Channel-deficient Mice. J Biol Chem. 2015;290:20880-92 pubmed publisher
    ..Mutations in the cone CNG channel subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophies...
  13. Selvakumar D, Drescher M, Dowdall J, Khan K, Hatfield J, Ramakrishnan N, et al. CNGA3 is expressed in inner ear hair cells and binds to an intracellular C-terminus domain of EMILIN1. Biochem J. 2012;443:463-76 pubmed publisher
    ..In the present study we report the full-length sequence for three CNGA3 variants in a hair cell preparation from the trout saccule with high identity to CNGA3 in olfactory receptor ..
  14. Li F, Huang X, Chen J, Yu X, Zheng M, Lu F, et al. Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. J Transl Med. 2015;13:334 pubmed publisher
    ..The compound heterozygous mutations in CNGA3 (c.1074G > A, p.W358X; c.1706G > A, p...
  15. Hayter E, Brown T. Additive contributions of melanopsin and both cone types provide broadband sensitivity to mouse pupil control. BMC Biol. 2018;16:83 pubmed publisher
    ..of anaesthetised mice with a red-shifted cone population (Opn1mwR) and mice lacking functional cones (Cnga3-/-) or melanopsin (Opn1mwR; Opn4-/-)...
  16. Pascual Camps I, Barranco González H, Aviñó Martínez J, Silva E, Harto Castaño M. Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature. J Pediatr Ophthalmol Strabismus. 2018;55:85-92 pubmed publisher
    ..b>CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6 gene mutations have been identified as associated with this disease...
  17. Pérez Gómez A, Bleymehl K, Stein B, Pyrski M, Birnbaumer L, Munger S, et al. Innate Predator Odor Aversion Driven by Parallel Olfactory Subsystems that Converge in the Ventromedial Hypothalamus. Curr Biol. 2015;25:1340-6 pubmed publisher
    ..responses in specific subsystems through disruption of genes encoding key sensory transduction proteins (Cnga3, Gnao1) or by surgical axotomy abolished avoidance behaviors and/or cellular Ca(2+) responses to different ..
  18. Hughes S, Rodgers J, Hickey D, Foster R, Peirson S, Hankins M. Characterisation of light responses in the retina of mice lacking principle components of rod, cone and melanopsin phototransduction signalling pathways. Sci Rep. 2016;6:28086 pubmed publisher
    Gnat(-/-), Cnga3(-/-), Opn4(-/-) triple knockout (TKO) mice lack essential components of phototransduction signalling pathways present in rods, cones and photosensitive retinal ganglion cells (pRGCs), and are therefore expected to lack ..
  19. Arango Gonzalez B, Trifunovic D, Sahaboglu A, Kranz K, Michalakis S, Farinelli P, et al. Identification of a common non-apoptotic cell death mechanism in hereditary retinal degeneration. PLoS ONE. 2014;9:e112142 pubmed publisher
    ..models, covering all major groups of hereditary human blindness (rd1, rd2, rd10, Cngb1 KO, Rho KO, S334ter, P23H, Cnga3 KO, cpfl1, Rpe65 KO), by investigating metabolic processes relevant for different forms of cell death...
  20. Davis K, Eleftheriou C, Allen A, Procyk C, Lucas R. Melanopsin-derived visual responses under light adapted conditions in the mouse dLGN. PLoS ONE. 2015;10:e0123424 pubmed publisher
    ..to melanopsin by switching between rod-isoluminant 'yellow' and 'blue' lights in a mouse lacking cone function (Cnga3-/-). In the retina these stimuli elicited melanopsin-like responses from a subset of ganglion cells...
  21. Sundaram V, Wilde C, Aboshiha J, Cowing J, Han C, Langlo C, et al. Retinal structure and function in achromatopsia: implications for gene therapy. Ophthalmology. 2014;121:234-245 pubmed publisher
    ..9 years (range, 6-52 years) were included. Disease-causing variants were found in CNGA3 (n = 18), CNGB3 (n = 15), GNAT2 (n = 4), and PDE6C (n = 1). No variants were found in 2 individuals. In all, 22...
  22. Sothilingam V, Michalakis S, Garcia Garrido M, Biel M, Tanimoto N, Seeliger M. HCN1 Channels Enhance Rod System Responsivity in the Retina under Conditions of Light Exposure. PLoS ONE. 2016;11:e0147728 pubmed publisher
    ..HCN1 channel actions in rod system responses, we generated double mutant mice by crossbreeding Hcn1-/- mice with Cnga3-/- mice in which cones are non-functional...
  23. Banin E, Gootwine E, Obolensky A, Ezra Elia R, Ejzenberg A, Zelinger L, et al. Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. Mol Ther. 2015;23:1423-33 pubmed publisher
    ..Mutations in the CNGA3 gene are a major cause of achromatopsia, and a sheep model of this disease was recently characterized by our group...
  24. Kahle N, Peters T, Zobor D, Kuehlewein L, Kohl S, Zhour A, et al. Development of methodology and study protocol: Safety and efficacy of a single subretinal injection of rAAV.hCNGA3 in patients with CNGA3-linked achromatopsia investigated in an exploratory dose-escalation trial. Hum Gene Ther Clin Dev. 2018;: pubmed publisher
    ..For essential complementation of the standard ophthalmological and systemic examinations, disease specific methods were developed to assess the safety, efficacy and patient reported outcomes in this trial. ..
  25. Carvalho L, Xu J, Pearson R, Smith A, Bainbridge J, Morris L, et al. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum Mol Genet. 2011;20:3161-75 pubmed publisher
    ..subretinal delivery of the vector, CNGB3 was detected in both M- and S-cones and resulted in increased levels of CNGA3, increased cone density and survival, improved cone outer segment structure and normal subcellular ..
  26. Du W, Tao Y, Deng W, Zhu P, Li J, Dai X, et al. Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. Hum Mol Genet. 2015;24:3699-707 pubmed publisher
    The CNGA3(-/-)/Nrl(-/-) mouse is a cone-dominant model with Cnga3 channel deficiency, which partially mimics the all cone foveal structure of human achromatopsia 2 with CNGA3 mutations...
  27. Athinarayanan J, Periasamy V, Alshatwi A. Fabrication and cytotoxicity assessment of cellulose nanofibrils using Bassia eriophora biomass. Int J Biol Macromol. 2018;117:911-918 pubmed publisher
    ..But CCNG1, CYCS3, and CCNC1 genes has no significant difference was observed...
  28. Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, et al. In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. Jpn J Ophthalmol. 2017;61:92-98 pubmed publisher
    The 2 most common causative genes for achromatopsia (ACHM) are CNGA3 and CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases...
  29. Matet A, Kohl S, Baumann B, Antonio A, Mohand Said S, Sahel J, et al. Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia. Sci Rep. 2018;8:5665 pubmed publisher
    ..In sixteen ACHM patients with genetic confirmation (CNGA3, n = 8; CNGB3, n = 7; PDE6C, n = 1), semiquantitative plots allowed the ..
  30. Tanaka N, Dutrow E, Miyadera K, Delemotte L, Macdermaid C, Reinstein S, et al. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. PLoS ONE. 2015;10:e0138943 pubmed publisher
    ..Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM)...
  31. Hohman T. Hereditary Retinal Dystrophy. Handb Exp Pharmacol. 2017;242:337-367 pubmed publisher
    ..adenine dinucleotide ubiquinone oxidoreductase (complex I) subunit 4 and achromatopsia, caused by mutations to CNGA3, cyclic nucleotide-gated channel alpha 3 and CNGB3, cyclic nucleotide-gated channel beta 3...
  32. Ansar M, Santos Cortez R, Saqib M, Zulfiqar F, Lee K, Ashraf N, et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet. 2015;134:941-50 pubmed publisher
    ..Currently mutations in five genes CNGA3, CNGB3, GNAT2, PDE6C and PDE6H have been implicated in ACHM...
  33. Hong S, Jung S, Lee E, Shin K, Yang W, Lee H. DNA methylation-based age prediction from saliva: High age predictability by combination of 7 CpG markers. Forensic Sci Int Genet. 2017;29:118-125 pubmed publisher
    ..CpG marker candidates (cg00481951, cg19671120, cg14361627, cg08928145, cg12757011, and cg07547549 of the SST, CNGA3, KLF14, TSSK6, TBR1, and SLC12A5 genes, respectively) in addition to a cell type-specific CpG marker (cg18384097 ..
  34. Toossi H, Del Cid Pellitero E, Jones B. Homeostatic regulation through GABA and acetylcholine muscarinic receptors of motor trigeminal neurons following sleep deprivation. Brain Struct Funct. 2017;222:3163-3178 pubmed publisher
    ..upon both GABAA and GABAB receptors (Rs) and acetylcholine (ACh) acting upon muscarinic 2 (AChM2) Rs...
  35. Täger J, Kohl S, Birch D, Wheaton D, Wissinger B, Reuter P. An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation. Exp Eye Res. 2018;171:48-53 pubmed publisher
    The cyclic nucleotide-gated (CNG) channel - composed of CNGA3 and CNGB3 subunits - mediates the influx of cations in cone photoreceptors after light stimulation and thus is a key element in cone phototransduction...
  36. Allen A, Cameron M, Brown T, Vugler A, Lucas R. Visual responses in mice lacking critical components of all known retinal phototransduction cascades. PLoS ONE. 2010;5:e15063 pubmed publisher
    ..Gnat1(-/-);Cnga3(-/-);Opn4(-/-) mice lack critical elements of each of these photoreceptive mechanisms via targeted disruption of ..
  37. Zelinger L, Cideciyan A, Kohl S, Schwartz S, Rosenmann A, Eli D, et al. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. Ophthalmology. 2015;122:997-1007 pubmed publisher
    ..the genetics of ACHM in Israel and the Palestinian Territories and analyzing retinal function and structure in CNGA3 ACHM patients from the Israeli-Palestinian population and US patients with other origins. Case series study...
  38. Li S, Huang L, Xiao X, Jia X, Guo X, Zhang Q. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. JAMA Ophthalmol. 2014;132:1076-83 pubmed publisher
    Mutations in CNGA3 are the most common cause of achromatopsia and cone-rod dystrophies. To identify CNGA3 mutations in patients with cone dystrophies or Leber congenital amaurosis...
  39. Kuniyoshi K, Muraki Oda S, Ueyama H, Toyoda F, Sakuramoto H, Ogita H, et al. Novel mutations in the gene for ?-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. Jpn J Ophthalmol. 2016;60:187-97 pubmed publisher
    ..Her genomic DNA was used as the template for the amplification of exons of five candidate genes for achromatopsia; CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H, and the amplified products were sequenced...
  40. Abdel Hamid H, Chin K, Moeder W, Shahinas D, Gupta D, Yoshioka K. A suppressor screen of the chimeric AtCNGC11/12 reveals residues important for intersubunit interactions of cyclic nucleotide-gated ion channels. Plant Physiol. 2013;162:1681-93 pubmed publisher
    ..two new alleles, S100 (AtCNGC11/12:G459R) and S137 (AtCNGC11/12:R381H), were identified as counterparts of human CNGA3 (a human CNGC) mutants. Both mutants lost all cpr22-mediated phenotypes...
  41. Dai X, He Y, Zhang H, Zhang Y, Liu Y, Wang M, et al. Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia. PLoS ONE. 2017;12:e0188032 pubmed publisher
    ..For example, a wild-type (WT) AAV5 vector can deliver a full-length Cnga3 (cyclic nucleotide-gated channel alpha-3) cDNA to target cells of the cone photoreceptor function loss 5 (cpfl5) ..
  42. Dai G, Sherpa T, Varnum M. Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides. J Biol Chem. 2014;289:13680-90 pubmed publisher
    Precursor mRNA encoding CNGA3 subunits of cone photoreceptor cyclic nucleotide-gated (CNG) channels undergoes alternative splicing, generating isoforms differing in the N-terminal cytoplasmic region of the protein...
  43. Dai G, Varnum M. CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions. Am J Physiol Cell Physiol. 2013;305:C147-59 pubmed publisher
    ..An achromatopsia-associated mutation in cone photoreceptor CNGA3, L633P, is located in a carboxyl (COOH)-terminal leucine zipper domain shown previously to be important for ..
  44. Doucette L, Green J, Black C, Schwartzentruber J, Johnson G, Galutira D, et al. Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. Ophthalmic Genet. 2013;34:119-29 pubmed publisher
    ..Sixteen patients from Newfoundland, Canada were sequenced for mutations in the four known achromatopsia genes CNGA3, CNGB3, GNAT2, and PDE6C...
  45. Yang P, Michaels K, Courtney R, Wen Y, Greninger D, Reznick L, et al. Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. JAMA Ophthalmol. 2014;132:823-31 pubmed publisher
    ..a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia...
  46. Peng C, Rich E, Varnum M. Subunit configuration of heteromeric cone cyclic nucleotide-gated channels. Neuron. 2004;42:401-10 pubmed
    Cone photoreceptor cyclic nucleotide-gated (CNG) channels are thought to be tetrameric assemblies of CNGB3 (B3) and CNGA3 (A3) subunits...
  47. Cioffi D, Rich T. Feedback regulation of cone cyclic nucleotide channels by phosphoinositides. Focus on "CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions&. Am J Physiol Cell Physiol. 2013;305:C131-2 pubmed publisher
  48. Kohl S, Hamel C. Clinical utility gene card for: achromatopsia. Eur J Hum Genet. 2011;19: pubmed publisher
  49. Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson S, et al. Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Hum Mutat. 2010;31:830-9 pubmed publisher
    The CNGA3 gene encodes the A3 subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel, an essential component of the phototransduction cascade...
  50. Liu C, Varnum M. Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. Am J Physiol Cell Physiol. 2005;289:C187-98 pubmed
    ..Recently, three mutations in the gene encoding the CNGA3 subunit of cone photoreceptor cyclic nucleotide-gated (CNG) channels have been linked to progressive cone ..
  51. Hofmann F, Biel M, Kaupp U. International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. Pharmacol Rev. 2005;57:455-62 pubmed
  52. Bright S, Rich E, Varnum M. Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate. Mol Pharmacol. 2007;71:176-83 pubmed
    ..mechanisms capable of altering the apparent ligand affinity of cone channels, we have expressed heteromeric (CNGA3 + CNGB3) human cone CNG channels in Xenopus laevis oocytes and characterized the alterations in channel activity ..
  53. Gootwine E, Abu Siam M, Obolensky A, Rosov A, Honig H, Nitzan T, et al. Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep. Invest Ophthalmol Vis Sci. 2017;58:1577-1584 pubmed publisher
    Applying CNGA3 gene augmentation therapy to cure a novel causative mutation underlying achromatopsia (ACHM) in sheep...
  54. Liang X, Dong F, Li H, Li H, Yang L, Sui R. Novel CNGA3 mutations in Chinese patients with achromatopsia. Br J Ophthalmol. 2015;99:571-6 pubmed publisher
    ..All exons of CNGA3, CNGB3, GNAT2, PDE6C and PDE6H were amplified by a PCR and screened for mutation by direct Sanger sequencing...
  55. Saqib M, Awan B, Sarfraz M, Khan M, Rashid S, Ansar M. Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3. Jpn J Ophthalmol. 2011;55:676-80 pubmed publisher
    ..Mutation screening was done for two of the families linked to CNGA3 and CNGB3 by direct sequencing of the coding regions and exon-intron boundaries of genes to find the pathogenic ..
  56. Zhong H, Molday L, Molday R, Yau K. The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry. Nature. 2002;420:193-8 pubmed
    ..Biochemical analysis of the purified bovine rod CNG channel confirmed this conclusion. This revised stoichiometry provides a new foundation for understanding the structure and function of the CNG channel family. ..
  57. Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, et al. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011;32:1450-9 pubmed publisher
    ..These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A...
  58. Azam M, Collin R, Shah S, Shah A, Khan M, Hussain A, et al. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis. 2010;16:774-81 pubmed
    ..Sequence analysis was used to find the mutations in candidate genes cyclic nucleotide-gated channel alpha-3 (CNGA3; family RP26) and cyclic nucleotide-gated channel beta-3 (CNGB3; family RP44)...
  59. Thapa A, Morris L, Xu J, Ma H, Michalakis S, Biel M, et al. Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency. J Biol Chem. 2012;287:18018-29 pubmed publisher
    ..Mutations in the cone CNG channel subunits CNGA3 and CNGB3 account for >70% of all known cases of achromatopsia...
  60. Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, et al. The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. Invest Ophthalmol Vis Sci. 2017;58:821-832 pubmed publisher
    The purpose of this study was to clinically characterize patients with CNGA3-linked achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial...
  61. Arbour N, Zlotogora J, Knowlton R, Merin S, Rosenmann A, Kanis A, et al. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet. 1997;6:689-94 pubmed
    ..A candidate gene for achromatopsia was excluded from this disease interval by radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an essential first step in the identification of the disease-causing gene. ..
  62. Shaikh R, Reuter P, Sisk R, Kausar T, Shahzad M, Maqsood M, et al. Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. Eur J Hum Genet. 2015;23:473-80 pubmed publisher
    ..955T>C; p.(Cys319Arg)) in CNGA3 co-segregated with the CRD phenotype in family PKAB157...
  63. Reichel F, Dauletbekov D, Klein R, Peters T, Ochakovski G, Seitz I, et al. AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye. Mol Ther. 2017;25:2648-2660 pubmed publisher
    ..analysis of innate and adaptive immune response to clinical-grade AAV8 in non-human primates and compare this to preliminary clinical data from a retinal gene therapy trial for CNGA3-based achromatopsia (ClinicalTrials.gov: 02610582).
  64. Koeppen K, Reuter P, Kohl S, Baumann B, Ladewig T, Wissinger B. Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). Eur J Neurosci. 2008;27:2391-401 pubmed publisher
    Mutations in the CNGA3 gene have been associated with complete and incomplete forms of total colour blindness (achromatopsia), a disorder characterized by reduced visual acuity, lack of colour discrimination, photophobia and nystagmus...
  65. Wissinger B, Jagle H, Kohl S, Broghammer M, Baumann B, Hanna D, et al. Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. Genomics. 1998;51:325-31 pubmed
    ..Radiation hybrid mapping of the CNGA3 gene encoding the alpha-subunit of the cGMP gated cation channel in human cone photoreceptors resulted in a ..
  66. Ahuja Y, Kohl S, Traboulsi E. CNGA3 mutations in two United Arab Emirates families with achromatopsia. Mol Vis. 2008;14:1293-7 pubmed
    ACHROMATOPSIA RESULTS FROM MUTATIONS IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide ..
  67. Vincent A, Wright T, Billingsley G, Westall C, Heon E. Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. Ophthalmic Genet. 2011;32:107-13 pubmed publisher
    To report the rare observation of CNGA3 mutation as a cause of oligocone trichromacy (OT) and present phenotypic characteristics...
  68. Roni V, Carpio R, Wissinger B. Mapping of transcription start sites of human retina expressed genes. BMC Genomics. 2007;8:42 pubmed
    ..The new TSSs and transcribed sequences are essential for further exploration of the promoter and other cis-regulatory sequences at the 5'end of genes. ..
  69. Okada A, Ueyama H, Toyoda F, Oda S, Ding W, Tanabe S, et al. Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. Invest Ophthalmol Vis Sci. 2004;45:2324-32 pubmed
    ..The rod monochromacy-associated S435F and D633G mutations in hCNGB3 evokes a significant increase in the apparent affinity for cGMP, which should alter cone function and thereby contribute at least partly to pathogenesis of the disease. ..
  70. Huang L, Xiao X, Li S, Jia X, Wang P, Sun W, et al. Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Exp Eye Res. 2016;146:252-8 pubmed publisher
    ..The following potentially pathogenic mutations were identified in 93 of the 163 (57.1%) probands: CNGA3 (32.5%), ABCA4 (3.8%), ALMS1 (3.1%), GUCY2D (3.1%), CACNA1F (2.5%), CRX (1.8%), PDE6C (1.8%), CNGB3 (1...
  71. Distler M, Biel M, Flockerzi V, Hofmann F. Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells. Neuropharmacology. 1994;33:1275-82 pubmed
    ..We were not able to identify additional genes encoding CNG channels. The CNG3 channel, which was originally cloned from bovine kidney may be expressed also in bovine cone photoreceptor cells...
  72. Meighan S, Meighan P, Rich E, Brown R, Varnum M. Cyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gating. Biochemistry. 2013;52:8352-62 pubmed publisher
    ..Ca(2+)- and Zn(2+)-dependent proteases, enhances the ligand sensitivity of both rod (CNGA1 and CNGB1) and cone (CNGA3 and CNGB3) CNG channels...
  73. Zelinger L, Greenberg A, Kohl S, Banin E, Sharon D. An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews. Hum Genet. 2010;128:261-7 pubmed publisher
    ..Here, we report of a rare achromatopsia-causing CNGA3 mutation (c.1585G>A) presents in both Arab Muslim and Oriental Jewish patients. A haplotype analysis of c...
  74. Lam K, Guo H, Wilson G, Kohl S, Wong F. Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. Arch Ophthalmol. 2011;129:1212-7 pubmed publisher
    To report disease-causing mutations in the cyclic nucleotide-gated channel ? 3 gene (CNGA3) identified by exome sequencing and bioinformatics filtering in a single patient...