GNPTG, Official Symbol GNPTGprovided by HGNC Official Full Name N-acetylglucosamine-1-phosphate transferase subunit gammaprovided by HGNC Primary source HGNC:HGNC:23026 See related Ensembl:ENSG00000090581 MIM:607838; AllianceGenome:HGNC:23026 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RJD9; GNPTAG; LP2537; C16orf27 Summary 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] Expression Ubiquitous expression in adrenal (RPKM 53.6), kidney (RPKM 34.3) and 25 other tissues See more Orthologs mouse all