A multisubunit enzyme (N-acetylglucosamine-1-phosphotransferase, EC 126.96.36.199, 2 α, 2 β, and 2 γ subunits) which catalyses the first step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases. The α and β subunits are coded on a single cDNA derived from a gene on chromosome 12, which is proteolytically processed to generate two peptides. The γ subunits are coded on a different gene on chromosome 16. Deficiency in the enzyme leads to mucolipidosis.
Subjects: Medicine and Health.