GNPTAB, Official Symbol GNPTABprovided by HGNC Official Full Name N-acetylglucosamine-1-phosphate transferase subunits alpha and betaprovided by HGNC Primary source HGNC:HGNC:29670 See related Ensembl:ENSG00000111670 MIM:607840; AllianceGenome:HGNC:29670 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 ICD; GNPTA Summary This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010] Expression Ubiquitous expression in colon (RPKM 16.4), lung (RPKM 13.5) and 25 other tissues See more Orthologs mouse all