The GNPTG gene provides instructions for making one part, the gamma subunit, of an enzyme called GlcNAc-1-phosphotransferase. This enzyme is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. The alpha and beta subunits are produced from a different gene, called GNPTAB. GlcNAc-1-phosphotransferase helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes called hydrolases to break down large molecules into smaller ones that can be reused by cells.
GlcNAc-1-phosphotransferase is involved in the first step of making a molecule called mannose-6-phosphate (M6P). M6P acts as a tag that indicates a hydrolase should be transported to the lysosome. Specifically, GlcNAc-1-phosphotransferase transfers a molecule called GlcNac-1-phosphate to a newly produced hydrolase. In the next step, a molecule is removed to reveal an M6P attached to the hydrolase. Once a hydrolase has an M6P tag, it can be transported to a lysosome.
Other Names
C16orf27; c316G12.3; CAB56184; GlcNAc-phosphotransferase gamma-subunit; GNPTAG; GNPTG_HUMAN; LP2537; N-acetylglucosamine-1-phosphate transferase gamma subunit; N-acetylglucosamine-1-phosphate transferase, gamma subunit; N-acetylglucosamine-1-phosphotransferase, gamma subunit; RJD9
Related Genetics Topics
Identifiers
- NCBI Gene: 84572
- OMIM: 607838
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
