KCNC1 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - EPM7 - KV3.1 - KV4 - Kv3.1 - NGK2 - Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 1 Gene - Potassium Channel, Voltage Gated Shaw Related Subfamily, Member 1 Gene - Potassium Channel, Voltage-Gated, Shaw-Related Subfamily, Member 1 Gene - Potassium Voltage-Gated Channel Subfamily C Member 1 wt Allele - Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 1 Gene
/api/v1/systems/nci_thesaurus/nodes/C202615Hierarchy Explorer
Cross-system equivalences0
No cross-system equivalences mapped for this node.