KCNC1 wt Allele

Preferred Label : KCNC1 wt Allele;

NCIt synonyms : Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 1 Gene; EPM7; Potassium Channel, Voltage-Gated, Shaw-Related Subfamily, Member 1 Gene; NGK2; Potassium Voltage-Gated Channel Subfamily C Member 1 wt Allele; Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 1 Gene; KV4; KV3.1;

NCIt definition : Human KCNC1 wild-type allele is located in the vicinity of 11p15.1 and is approximately 122 kb in length. This allele, which encodes potassium voltage-gated channel subfamily C member 1 protein, plays a role in potassium transport that allows neurons to repolarize in response to high frequency stimuli. A point mutation in the gene is associated with progressive myoclonic epilepsy 7.;

NCI Metathesaurus CUI : CL1921905;

GenBank Accession Number : M96747;

Details

Origin ID

C202615;

UMLS CUI

C5890982;

OMIM relation
- Potassium channel, voltage-gated, shaw-related subfamily, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p15.1 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Potassium Channel Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
- Voltage-Gated Potassium Ion Channel Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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