GNPTAB wt Allele

Preferred Label : GNPTAB wt Allele;

NCIt synonyms : N-Acetylglucosamine-1-Phosphate Transferase, Alpha and Beta Subunits Gene; Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase Gene; GNPTA; N-Acetylglucosamine-1-Phosphotransferase, Alpha/Beta Subunits Gene; GlcNAc Phosphotransferase Gene; UDP-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosamine Gene; N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha and Beta wt Allele; ICD; N-Acetylglucosamine-1-Phosphate Transferase Alpha and Beta Subunits Gene;

NCIt definition : Human GNPTAB wild-type allele is located in the vicinity of 12q23.2 and is approximately 85 kb in length. This allele, which encodes N-acetylglucosamine-1-phosphotransferase subunits alpha/beta protein, plays a role in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. Mutation of the gene is associated with inclusion-cell disease and mucolipidosis types 3A/3B.;

GenBank Accession Number : AY687932;

Details

Origin ID

C202960;

OMIM relation
- N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]

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