KCNV2 wt Allele

Preferred Label : KCNV2 wt Allele;

NCIt synonyms : Potassium Channel, Voltage-Gated, Subfamily V, Member 2 Gene; KV11.1; Potassium Channel, Voltage Gated Modifier Subfamily V, Member 2 Gene; KV8.2; Potassium Voltage-Gated Channel Modifier Subfamily V Member 2 wt Allele; RCD3B; Potassium Channel, Subfamily V, Member 2 Gene;

NCIt definition : Human KCNV2 wild-type allele is located in the vicinity of 9p24.2 and is approximately 13 kb in length. This allele, which encodes potassium voltage-gated channel subfamily V member 2 protein, is involved in the regulation of voltage-gated potassium channel activity. Mutation of the gene is associated with autosomal recessive retinal cone dystrophy 3B.;

NCI Metathesaurus CUI : CL1921494;

GenBank Accession Number : AF348983;

Détails

Origin ID

C202665;

UMLS CUI

C5890910;

OMIM relation
- Potassium channel, voltage-gated, subfamily V, member 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p24.2 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Potassium Channel Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Potassium Ion Channel Activation [NCIt concept]

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

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