GNS wt Allele - CISMeF

Preferred Label : GNS wt Allele;

NCIt synonyms : Glucosamine (N-Acetyl)-6-Sulfatase wt Allele; G6S; Sanfilippo Disease IIID Gene;

NCIt definition : Human GNS wild-type allele is located in the vicinity of 12q14.3 and is approximately 46 kb in length. This allele, which encodes N-acetylglucosamine-6-sulfatase protein, is involved in glycosaminoglycan degradation. Mutations in the gene are associated with mucopolysaccharidosis type IIID (Sanfilippo D).;

GenBank Accession Number : NM_002076;

Détails

Origin ID

C217369;

OMIM relation
- N-acetylglucosamine-6-sulfatase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q14.3 [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

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

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