Official Full Name
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
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.
GNPTAB; N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; GNPTA; N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; KIAA1208; MGC4170; EC=188.8.131.52; GlcNAc-1-phosphotransferase subunits alpha/beta; GNPTA_HUMAN; N-acetylglucosamine-1-phosphotransferase subunit beta; Stealth protein GNPTAB; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; GlcNAc phosphotransferase; UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine; glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase; ICD; DKFZp762B226; wu:fd55d09; zgc:122985; zgc:158502; si:ch211-234f20.3; glcNAc-1-phosphotransferase subunits