Research TopicsGenomes and Genes | GNPTGSummaryGene Symbol: GNPTG Description: N-acetylglucosamine-1-phosphate transferase subunit gamma Alias: C16orf27, GNPTAG, LP2537, RJD9, N-acetylglucosamine-1-phosphotransferase subunit gamma, N-acetylglucosamine-1-phosphate transferase gamma subunit, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, glcNAc-1-phosphotransferase subunit gamma Species: human Products: GNPTG Top Publications
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- van Meel E, Kornfeld S. Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the ? Subunit of GlcNAc-1-Phosphotransferase. Hum Mutat. 2016;37:623-6 pubmed publisher..Several missense mutations in GNPTG, the gene encoding the ? subunit, have been reported in mucolipidosis III ? patients...
- Liu S, Zhang W, Shi H, Meng Y, Qiu Z. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. Gene. 2014;535:294-8 pubmed publisherMucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the ? subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase)...
- Pohl S, Encarnação M, Castrichini M, Muller Loennies S, Muschol N, Braulke T. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics. Am J Med Genet A. 2010;152A:124-32 pubmed publisher..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...
- Persichetti E, Chuzhanova N, Dardis A, Tappino B, Pohl S, Thomas N, et al. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. Hum Mutat. 2009;30:978-84 pubmed publisher..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...
- Chen H, Xu J, Zhou Y, Gao Y, Wang G, Xia J, et al. Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population. BMC Genet. 2015;16:7 pubmed publisher..As previous study reported association of GNPTAB, GNPTG and NAGPA with stuttering, we investigated these genes with dyslexia through association analysis...
- Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T. Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma. Biochim Biophys Acta. 2009;1792:221-5 pubmed publisher..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...
- Qian Y, Lee I, Lee W, Qian M, Kudo M, Canfield W, et al. Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. J Biol Chem. 2010;285:3360-70 pubmed publisher..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. ..
- Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, et al. Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease. Pediatr Rheumatol Online J. 2017;15:72 pubmed publisher..196C>T in exon 4 and c.635_636delTT in exon 9 of GNPTG gene...
- Encarnação M, Lacerda L, Costa R, Prata M, Coutinho M, Ribeiro H, et al. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. Clin Genet. 2009;76:76-84 pubmed publisher..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...
- Kang C, Drayna D. A role for inherited metabolic deficits in persistent developmental stuttering. Mol Genet Metab. 2012;107:276-80 pubmed publisher..first variant genes to be associated with stuttering are those encoding the lysosomal targeting system, GNPTAB, GNPTG, and NAGPA...
- Gao Y, Yang K, Xu S, Wang C, Liu J, Zhang Z, et al. Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma. Mol Genet Metab. 2011;102:107-9 pubmed publisher..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...
- Velho R, Ludwig N, Alegra T, Sperb Ludwig F, Guarany N, Matte U, et al. Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. J Hum Genet. 2016;61:555-60 pubmed publisherMucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene...
- Ben Yoseph Y, Potier M, Pack B, Mitchell D, Melancon S, Nadler H. Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation. Biochem J. 1986;235:883-6 pubmed..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. ..
- Raza M, Domingues C, Webster R, Sainz E, Paris E, Rahn R, et al. Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes. Eur J Hum Genet. 2016;24:529-34 pubmed publisherHomozygous 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 ..
- De Pace R, Velho R, Encarnação M, Marschner K, Braulke T, Pohl S. Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex. Hum Mol Genet. 2015;24:6826-35 pubmed publisher..GNPTAB and GNPTG encode the α/β-subunit precursor membrane proteins and the soluble γ-subunits, respectively...
- Kazemi N, Estiar M, Fazilaty H, Sakhinia E. Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers. Gene. 2018;647:93-100 pubmed publisher..Previously, mutations with more severe effects on GNPTAB and GNPTG have been reported to cause Mucolipidosisll (ML-ll) and Mucolipidosislll (ML-lll), two lysosomal storage disorders ..