Genomes and Genes
Gene Symbol: GNPTG
Description: N-acetylglucosamine-1-phosphate transferase gamma subunit
Alias: C16orf27, GNPTAG, LP2537, RJD9, N-acetylglucosamine-1-phosphotransferase subunit gamma, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, glcNAc-1-phosphotransferase subunit gamma
- Mutations in the lysosomal enzyme-targeting pathway and persistent stutteringChangsoo Kang
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA
N Engl J Med 362:677-85. 2010..Genetic factors have been implicated in this disorder, and previous studies of stuttering have identified linkage to markers on chromosome 12...
- A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counselingRenata Voltolini Velho
Gene Therapy Center, Experimental Research Center, Hospital de Clinicas de Porto Alegre, RS, Brazil Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
Mol Genet Metab Rep 1:98-102. 2014..by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in the GNPTG gene...
- Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferaseYi Qian
Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Biol Chem 285:3360-70. 2010..We postulate that the mannose 6-phosphate receptor homology domain of the gamma subunit binds and presents the high mannose glycans of the acceptor to the alpha/beta catalytic site in a favorable manner...
- A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stutteringTae Un Han
National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD 20892, USA
Neurobiol Dis 69:23-31. 2014..This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering...
- Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gammaEmanuele Persichetti
Dipartimento di Medicina Interna, Universita degli Studi di Perugia, Perugia, Italy
Hum Mutat 30:978-84. 2009..a study of 10 patients from seven families with a clinical phenotype and enzymatic diagnosis of MLIII, six novel GNPTG gene mutations were identified. These included missense (p.T286M) and nonsense (p...
- Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese populationHuan Chen
State Key Laboratory of Proteomics, Beijing Proteome Research Center, Beijing Institute of Radiation Medicine, Beijing, 102206, China
BMC Genet 16:7. 2015..As previous study reported association of GNPTAB, GNPTG and NAGPA with stuttering, we investigated these genes with dyslexia through association analysis.
- Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genesM Hashim Raza
Laboratory of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, MD, USA
Eur J Hum Genet 24:529-34. 2016Homozygous mutations in GNPTAB and GNPTG are classically associated with mucolipidosis II (ML II) alpha/beta and mucolipidosis III (ML III) alpha/beta/gamma, which are rare lysosomal storage disorders characterized by multiple ..
- Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complexRaffaella De Pace
Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Martinistrasse 52, Hamburg 20246, Germany
Hum Mol Genet 24:6826-35. 2015..GNPTAB and GNPTG encode the α/β-subunit precursor membrane proteins and the soluble γ-subunits, respectively...
- Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutationsRenata Voltolini Velho
Gene Therapy Center, Experimental Research Center, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil
J Hum Genet 61:555-60. 2016Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene...
- Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-PhosphotransferaseEline van Meel
Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri, 63110, USA
Hum Mutat 37:623-6. 2016..Several missense mutations in GNPTG, the gene encoding the γ subunit, have been reported in mucolipidosis III γ patients...
- Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathologyHeather Flanagan-Steet
Complex Carbohydrate Research Center, 315 Riverbend Road, University of Georgia, Athens, GA 30602, United States
Biochim Biophys Acta 1860:1845-53. 2016..This process is initiated by GlcNAc-1-phosphotransferase, a multi-subunit enzyme encoded by the GNPTAB and GNPTG genes...
- Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gammaShuang Liu
Department of Pediatrics, PUMC Hospital, CAMS and PUMC, Beijing 100730, PR China
Gene 535:294-8. 2014Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase)...
- Molecular analysis of the GlcNac-1-phosphotransferaseT Braulke
Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
J Inherit Metab Dis 31:253-7. 2008..The recent identification of two genes, GNPTAB and GNPTG, encoding the three subunits of GlcNac-1-phosphotransferase leads to an improvement of both pre- and postnatal ..
- A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation siteStephan Tiede
Department of Biochemistry, Children s Hospital, Hamburg, Germany
Hum Mutat 24:535. 2004..The gene encoding the gamma-subunit (GNPTAG) appears to be defective in patients with mucolipidosis type III (ML III)...
- Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis IIIA Raas-Rothschild
Department of Human Genetics, Hadassah University Medical Center, Jerusalem, Israel
J Med Genet 41:e52. 2004
- A role for inherited metabolic deficits in persistent developmental stutteringChangsoo Kang
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 107:276-80. 2012..first variant genes to be associated with stuttering are those encoding the lysosomal targeting system, GNPTAB, GNPTG, and NAGPA...
- Transcriptional response of the bovine endometrium and embryo to endometrial polymorphonuclear neutrophil infiltration as an indicator of subclinical inflammation of the uterine environmentMichael Hoelker
Insititute of Animal Science, Animal Breeding and Husbandry Group, University of Bonn, Endenicher Allee 15, 53115 Bonn, Germany
Reprod Fertil Dev 24:778-93. 2012..Similarly, 11 transcripts were found to be differentially regulated on Day 7. Of these, GNPTG, BOLA-DQA5, CHD2, LOC541226, VCAM1 and ARHGEF2 were found to be downregulated, whereas PSTPIP2, BT236441 and ..
- [Stuttering: effects of genes and early treatment]Engelbert J E G Bast
Nederlandse Federatie Stotteren, Utrecht, The Netherlands
Ned Tijdschr Geneeskd 155:A3514. 2011..The mutated genes found are GNPTAB, GNPTG and NAGPA. They are involved in lysosomal decomposition...
- Genetic approaches to understanding the causes of stutteringDennis Drayna
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2B 46, Rockville, MD, 20850, USA
J Neurodev Disord 3:374-80. 2011..Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes...
- Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalitiesKasmintan A Schrader
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada
J Pathol 225:12-8. 2011..with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type IIIγ...
- Genetics of speech and language disordersChangsoo Kang
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Genomics Hum Genet 12:145-64. 2011..approaches in consanguineous families identified mutations in the lysosomal enzyme-targeting pathway genes GNPTAB, GNPTG, and NAGPA, revealing a role for inherited defects in cell metabolism in this disorder...
- Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gammaYong Gao
Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China
Mol Genet Metab 102:107-9. 2011..In a Chinese family with three siblings, linkage analysis revealed positive linkage of the family to GNPTG. Direct DNA sequence analysis identified two novel compound heterozygous mutations, c...
- Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversityM F Coutinho
Medical Genetics Center Jacinto Magalhães, Research and Development Unit, Department of Genetics, INSA, Portugal
Clin Genet 80:273-80. 2011..GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta...
- Fine mapping and expression of candidate genes within the chromosome 10 QTL region of the high and low alcohol-drinking ratsPaula J Bice
Department of Medicine, Indiana University School of Medicine, Medical Research and Library Building, Indianapolis, IN 46202, USA
Alcohol 44:477-85. 2010..Quantitative real-time PCR was used to examine mRNA expression of six candidate genes (Crebbp, Trap1, Gnptg, Clcn7, Fahd1, and Mapk8ip3) located within the narrowed QTL region in the HAD1/LAD1 rats...
- Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivationY Ben-Yoseph
Biochem J 235:883-6. 1986..The values for the fibroblast enzymes were about 20% higher, 283 +/- 27 kDa and 156 +/- 14 kDa for the transferase and phosphodiesterase respectively. Triton X-100 had no effect on the molecular size of these enzymes...
- Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnosticsSandra Pohl
Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany
Am J Med Genet A 152:124-32. 2010..Direct sequencing identified a novel homozygous mutation in intron 7, IVS7-10G>A, of the GNPTG gene, which encodes the gamma-subunit of the GlcNAc-1-phosphotransferase...
- Increased levels and defective glycosylation of MRPs in ovarian carcinoma cells resistant to oxaliplatinGiovanni Luca Beretta
Department of Experimental Oncology and Molecular Medicine, Fondazione IRCSS Istituto Nazionale Tumori, Milan, Italy
Biochem Pharmacol 79:1108-17. 2010..defect of oxaliplatin-resistant cells was linked to reduced levels of N-acetylglucosamine-1-phosphotransferase (GNPTG) and mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5)...
- Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis IIIMaryam Zarghooni
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 149:2753-61. 2009Mucolipidosis II and III are autosomal recessive disorders due to mutations in the GNPTAB and GNPTG genes encoding the alphabeta- and gamma-subunits of the GlcNAc-1-phosphotransferase, respectively...
- Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gammaSandra Pohl
Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf Martinistrasse 52, Building N27, 20246 Hamburg, Germany
Biochim Biophys Acta 1792:221-5. 2009..beta-subunits are catalytically active and encoded by a single gene, GNPTAB, whereas the gamma-subunit encoded by GNPTG is proposed to recognize conformational structures common to lysosomal enzymes...
- Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutationsM Encarnação
National Health Institute Dr Ricardo Jorge, Center of Medical Genetics Dr Jacinto Magalhães, 4099 028 Porto, Portugal
Clin Genet 76:76-84. 2009..transmembrane enzyme composed of three subunits (alpha, beta and gamma) encoded by two genes -GNPTAB and GNPTG. Defects in GNPTAB result in ML II and III whereas mutations in GNPTG were only found in ML III patients...
- Comparative pathology of murine mucolipidosis types II and IIICP Vogel
Lexicon Pharmaceuticals, Pathology Department, 8800 Technology Forest Place, The Woodlands, TX 77381 1160, USA
Vet Pathol 46:313-24. 2009..alterations in secretory cells of several exocrine glands; however, lesions in gamma-subunit deficient (Gnptg(-/-)) mice were milder and more restricted in distribution than in alpha/beta-subunit deficient (Gnptab(-/-)) mice...
- Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTGStephan Tiede
Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
Hum Mutat 27:830-1. 2006..Phosphotransferase deficiency is caused by mutations in GNPTA and GNPTG encoding phosphotransferase subunits...
- When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal
Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Mol Genet Metab 88:359-63. 2006..by the GNPTA gene is the catalytic subunit of the enzyme while the gamma recognition subunit is encoded by the GNPTAG gene. We report the molecular analysis of GNPTA in 21 families with ML II and 3 families with ML III...
- Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIAKyung Hoon Paik
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gang Nam Gu, Seoul, 135 710, Korea
Hum Mutat 26:308-14. 2005..mutations in the GNPTA (MGC4170) gene, which codes for the alpha/beta subunits of phosphotransferase, and in the GNPTAG gene, which codes for its gamma subunits in five Korean patients with mucolipidosis type II or IIIA...
- Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotypeStephan Tiede
Department of Biochemistry, Children s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany
Am J Med Genet A 137:235-40. 2005..Mutations in the phosphotransferase gamma subunit gene (GNPTAG) have been reported to be responsible for ML III...
- Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)A Raas-Rothschild
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel
J Clin Invest 105:673-81. 2000..This is to our knowledge the first description of the molecular basis for a human mucolipidosis and suggests that the gamma subunit functions in lysosomal hydrolase recognition...
- Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epitheliumGraeme Wistow
Section on Molecular Structure and Function, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 2740, USA
Mol Vis 8:185-95. 2002..Expressed sequence tag (EST) analysis of human iris has been performed to explore the repertoire of genes expressed in this tissue...
- Identification of Genes for Alcohol Preference in Noninbred Rats and MicePaula Bice; Fiscal Year: 2009..abstract_text> ..