ANO3 wt Allele

Preferred Label : ANO3 wt Allele;

NCIt synonyms : Chromosome 11 Open Reading Frame 25 Gene; GENX-3947; Anoctamin 3 wt Allele; TMEM16C; Transmembrane Protein 16C (Eight Membrane-Spanning Domains) Gene; DYT23; DYT24; C11orf25;

NCIt definition : Human ANO3 wild-type allele is located in the vicinity of 11p14.2 and is approximately 479 kb in length. This allele, which encodes anoctamin-3 protein, plays a role in phospholipid metabolism and potassium channel activity regulation. Mutation of the gene is associated with dystonia 24.;

NCI Metathesaurus CUI : CL1773114;

GenBank Accession Number : AJ300461;

Details

Origin ID

C185064;

UMLS CUI

C5575438;

Automatic exact mappings (from CISMeF team)
- Anoctamin 3 [OMIM gene]
- Dystonia 23 [OMIM Phenotype]
- Dystonia 24 [OMIM Phenotype]
- anoctamin 3 [ORDO Gene]
OMIM relation
- Anoctamin 3 [OMIM gene]
See also inter- (CISMeF)
- Adult-onset cervical dystonia, DYT23 type [ORDO Disease]
- Cranio-cervical dystonia with laryngeal and upper-limb involvement [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Phospholipid Metabolism [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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