Aliases for GNPTG Gene
External Ids for GNPTG Gene
Previous HGNC Symbols for GNPTG Gene
Previous GeneCards Identifiers for GNPTG Gene
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
GeneCards Summary for GNPTG Gene
GNPTG (N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma) is a Protein Coding gene. Diseases associated with GNPTG include Mucolipidosis Iii Gamma and Mucolipidosis. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. An important paralog of this gene is PRKCSH.
UniProtKB/Swiss-Prot Summary for GNPTG Gene
Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.