Aliases: EPM7, KV3.1, KV4, NGK2
Chromosome No: 11
Chromosome Band: 11p15.1
Genetic Category: Rare single gene variant--Functional
ASD Reports: 10
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
De novo missense variants in the KCNC1 gene were identified in two ASD probands (Iossifov et al., 2014; Yuen et al., 2017) and a proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified KCNC1 as a gene with an excess of missense variants (false discovery rata < 5%, count >1) (Coe et al., 2018).
Molecular Function
This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes; this channel plays an important role in the rapid repolarization of fast-firing brain neurons.
External Links
