Gene 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

  1. Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin J, et al. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med. 2010;362:677-85 pubmed publisher
    ..We also identified three mutations in the GNPTG gene, which encodes the gamma subunit of GNPT, in affected subjects of Asian and European descent but not in ..
  2. Frigerio Domingues C, Gkalitsiou Z, Zezinka A, Sainz E, Gutierrez J, BYRD C, et al. Genetic factors and therapy outcomes in persistent developmental stuttering. J Commun Disord. 2019;80:11-17 pubmed publisher
    ..We evaluated a cohort of 51 stuttering individuals with who carried a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene...
  3. Han T, Park J, Domingues C, Moretti Ferreira D, Paris E, Sainz E, et al. A study of the role of the FOXP2 and CNTNAP2 genes in persistent developmental stuttering. Neurobiol Dis. 2014;69:23-31 pubmed publisher
    ..This was compared to the distribution of variants in the GNPTAB, GNPTG, and NAGPA genes which have previously been associated with persistent stuttering...
  4. Di Lorenzo G, Velho R, Winter D, Thelen M, Ahmadi S, Schweizer M, et al. Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells. Mol Cell Proteomics. 2018;17:1612-1626 pubmed publisher site-1 protease, the α/β-subunit precursor is catalytically activated but the functions of γ-subunits (Gnptg) in M6P modification of lysosomal enzymes are unknown...
  5. Wang Y, Ye J, Qiu W, Han L, Gao X, Liang L, et al. Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II. Acta Pharmacol Sin. 2019;40:279-287 pubmed publisher
    ..Mucolipidosis II and III are caused by mutations in the GNPTAB and GNPTG genes, and patients with these diseases are characterized by short stature, skeletal abnormalities, and ..
  6. Flanagan Steet H, Matheny C, Petrey A, Parker J, Steet R. Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase ?? and ? subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology. Biochim Biophys Acta. 2016;1860:1845-53 pubmed publisher
    ..This process is initiated by GlcNAc-1-phosphotransferase, a multi-subunit enzyme encoded by the GNPTAB and GNPTG genes...
  7. Vordenbäumen S, Lueking A, Budde P, Zucht H, Goehler H, Brinks R, et al. Sequential high-content profiling of the IgG-autoantibody repertoire reveals novel antigens in rheumatoid arthritis. Arthritis Res Ther. 2016;18:235 pubmed three antigens was increased in all cohorts tested: N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1), and insulin-like growth factor binding protein 2 (..
  8. Raas Rothschild A, Cormier Daire V, Bao M, Genin E, Salomon R, Brewer K, et al. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000;105:673-81 pubmed
    ..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...
  9. Tuysuz B, Kasapcopur O, Alkaya D, Sahin S, Sozeri B, Yeşil G. Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients. Gene. 2018;642:398-407 pubmed publisher
    ..Biallelic mutations in the GNPTG gene, which encode the ? subunit of the N-acetylglucosamine-1-phosphotransferase enzyme, are the underlying cause ..

More Information


  1. 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...
  2. 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 publisher
    Mucolipidosis 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)...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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. ..
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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 publisher
    Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene...
  13. 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. ..
  14. 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 publisher
    Homozygous 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 ..
  15. 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...
  16. 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 ..