KCNIP1 Chromosome 5
Potassium voltage-gated channel interacting protein 1
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What This Gene Does
This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"Potassium voltage-gated channel regulatory subunits|EF-hand domain containing"
Locus Type
gene with protein product
Location
5q35.1
Ensembl
ENSG00000182132
Associated Conditions (1)
Idiopathic generalized epilepsy
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1763869544 | Health Risk | Pathogenic | Idiopathic generalized epilepsy, Idiopathic generalized epilepsy |