Aliases for GNPTAB Gene
- N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta Subunits 2 3
- GNPTA 3 4 6
- UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3 4
- GlcNAc-1-Phosphotransferase Subunits Alpha/Beta 3 4
- Stealth Protein GNPTAB 3 4
- Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase 3
- N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3
External Ids for GNPTAB Gene
Previous HGNC Symbols for GNPTAB Gene
Previous GeneCards Identifiers for GNPTAB Gene
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]
GeneCards Summary for GNPTAB Gene
GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta Subunits) is a Protein Coding gene. Diseases associated with GNPTAB include mucolipidosis iii alpha/beta and mucolipidosis ii alpha/beta. Among its related pathways are Lysosome. GO annotations related to this gene include calcium ion binding and UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity.
UniProtKB/Swiss-Prot for GNPTAB Gene
Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.