Entity Details

Primary name GNPTG
Entity type gene
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Details

PrimaryID84572
RefseqGeneNG_016985
SymbolGNPTG
NameN-acetylglucosamine-1-phosphate transferase subunit gamma
Chromosome16
Location16p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGNPTG_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
GO:0005794 Golgi apparatus
GO:0042803 protein homodimerization activity
GO:0046835 carbohydrate phosphorylation
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
252605 OMIMMucolipidosis type III complementation group C (MLIIIC)Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts. The disease is caused by variants affecting the gene represented in this entry.