Gene Symbol: Gnptg
Description: N-acetylglucosamine-1-phosphotransferase, gamma subunit
Alias: 6430527N14Rik, A830081F19, AU067667, AU067744, Mdcp1, Tce7, N-acetylglucosamine-1-phosphotransferase subunit gamma, M6PR domain-containing protein 1, T-complex expressed 7, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma, glcNAc-1-phosphotransferase subunit gamma, mannose-6-phosphate receptor domain
Lee W, Payne B, Gelfman C, Vogel P, Kornfeld S. Murine UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase lacking the gamma-subunit retains substantial activity toward acid hydrolases. J Biol Chem. 2007;282:27198-203 pubmed
..These findings demonstrate that the alpha/beta-subunits, in addition to their catalytic function, have some ability to recognize acid hydrolases as specific substrates. This process is enhanced by the gamma-subunit. ..
Vogel P, Payne B, Read R, Lee W, Gelfman C, Kornfeld S. Comparative pathology of murine mucolipidosis types II and IIIC. Vet Pathol. 2009;46:313-24 pubmed publisher
..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...
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. ..
Sun Q, Li J, Wang C, Huang X, Huang H, Du D, et al
. Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis. Gene. 2005;347:55-64 pubmed
Idol R, Wozniak D, Fujiwara H, Yuede C, Ory D, Kornfeld S, et al
. Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III Î³. PLoS ONE. 2014;9:e109768 pubmed publisher
Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S. Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase. J Biol Chem. 2011;286:5311-8 pubmed publisher
..The data provide evidence that assembly of the GlcNAc-1-phosphotransferase complex takes place in the ER and requires dimerization of the ?-subunits. ..
Schrader K, Heravi Moussavi A, Waters P, Senz J, Whelan J, Ha G, et al
. Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J Pathol. 2011;225:12-8 pubmed publisher
..with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion in GNPTG, the gene implicated in mucolipidosis type III?...