GNPTG wt Allele

Preferred Label : GNPTG wt Allele;

NCIt synonyms : RJD9; GlcNAc-Phosphotransferase Gamma-Subunit Gene; GNPTAG; N-Acetylglucosamine-1-Phosphate Transferase Gamma Subunit Gene; N-Acetylglucosamine-1-Phosphotransferase, Gamma Subunit Gene; C16orf27; N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma wt Allele; Chromosome 16 Open Reading Frame 27 Gene; CAB56184; LP2537;

NCIt definition : Human GNPTG wild-type allele is located in the vicinity of 16p13.3 and is approximately 14 kb in length. This allele, which encodes N-acetylglucosamine-1-phosphotransferase subunit gamma, is involved in mannose 6-phosphate biosynthesis. Mutations in the gene are associated with mucolipidosis type III complementation group C (mucolipidosis III gamma) and increased susceptibility to persistent stuttering.;

NCI Metathesaurus CUI : CL1920865;

GenBank Accession Number : BC014592;

Détails

Origin ID

C201702;

UMLS CUI

C5890934;

OMIM relation
- N-acetylglucosamine-1-phosphotransferase, gamma subunit [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p13.3 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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