GNPTG

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma. [provided by RefSeq, Feb 2010]

Description

N-acetylglucosamine-1-phosphate transferase subunit gamma

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (1351931 - 1364113)

Ensembl ID

ENSG00000090581  (ver. 103.38)

Orthologs

Mouse Gnptg: ENSMUSG00000035521

UniProt

Q9UJJ9

neXtProt

NX_Q9UJJ9

Human splice variants
Mouse splice variants

Protein structure