Gene: KCNC1

Alternate names for this Gene: EPM7|KV3.1|KV4|NGK2

Gene Summary: This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both 'b' and 'alpha', while the shorter isoform has been called both 'a' and 'beta' (PMIDs 1432046, 12091563).

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.1

Description of this Gene: potassium voltage-gated channel subfamily C member 1

Type of Gene: protein-coding

rs7926805 in KCNC1 gene and Body mass index PMID 27296613 2016 Multiethnic genome-wide association study identifies ethnic-specific associations with body mass index in Hispanics and African Americans.

rs1565162623 in KCNC1 gene and EPILEPSY, PROGRESSIVE MYOCLONIC 7 PMID 27629860 2016 Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.

PMID 25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

PMID 28380698 2017 Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.