ANO6 wt Allele

Preferred Label : ANO6 wt Allele;

NCIt synonyms : SCTS; DKFZp313M0720; Anoctamin 6 wt Allele; TMEM16F; BDPLT7;

NCIt definition : Human ANO6 wild-type allele is located in the vicinity of 12q12 and is approximately 266 kb in length. This allele, which encodes anoctamin-6 protein, is involved in phospholipid scrambling. A splice acceptor site mutation is associated with Scott syndrome.;

NCI Metathesaurus CUI : CL1662366;

GenBank Accession Number : AL832340;

Details

Origin ID

C179876;

UMLS CUI

C5551032;

Automatic exact mappings (from CISMeF team)
- Anoctamin 6 [OMIM gene]
- Scott syndrome [OMIM Phenotype]
- anoctamin 6 [ORDO Gene]
OMIM relation
- Anoctamin 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q12 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients