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; Potassium Channel, Voltage Gated Shaw Related Subfamily, Member 1 Gene;
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 potassium channel
KCNC1 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;
Origin ID : C202615;
UMLS CUI : C5890982;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_plays_role_in_process
