Recombinant Human Nacetylglucosamine1phosphotransferase subunit gamma (GNPTG)

1. Study identified three novel mutations in GNPTG causing Mucolipidosis type III. Some were associated with severe clinical phenotype with an earlier onset of signs and symptoms and poorer prognosis. PMID: 29170090
2. Analysis of the missense mutations in the gamma subunit of GlcNAc-1-phosphotransferase reported in patients with mucolipidosis III gamma shows that three of the four variants, p.G106S, p.G126S and p.C142Y, caused misfolding of the gamma subunit, while one variant, p.T286M, was normal. The misfolded gamma subunits were retained in the endoplasmic reticulum and failed to rescue the lysosomal targeting of lysosomal acid g... PMID: 27038293
3. we suggest that GNPTG analysis must be performed on gDNA because of the instability of mRNA containing premature stop codons and the occurrence of mRNA editing. The mRNA editing could play an important role in modulating the association between mutant genotype and clinical phenotype. PMID: 26935170
4. persistent stuttering is associated with mutations in GNPTG that are generally not found in mucolipidosis. PMID: 26130485
5. findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified) PMID: 24316125
6. two novel heterozygous mutations in GNPTG, including a splice site mutation and a 1-bp deletion in a Chinese family with mucolipidosis type III gamma. PMID: 20951619
7. results suggest that PRL-3's roles in motility, invasion, and metastasis in colon cancer are critically controlled by the integrin beta1-ERK1/2-MMP2 signaling PMID: 20034096
8. identified mutations in GNPTG gene in subjects with stuttering PMID: 20147709
9. analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase PMID: 19955174
10. The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment. PMID: 19370764
11. novel mutation identified in GNPTG in mucolipidosis type III gamma resulting in truncated but stable gamma-subunit;gamma subunit appears to be involved in regulation of GlcNAc-1-phosphotransferase activity rather than general binding of lysosomal enzymes PMID: 19708128

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HGNC: 23026

OMIM: 252605

KEGG: hsa:84572

STRING: 9606.ENSP00000204679

UniGene: Hs.241575