KCNV1

Chr 8

potassium voltage-gated channel modifier subfamily V member 1

Also known as: HNKA, KCNB3, KV2.3, KV8.1

NCBI Gene: 27012 ENSG00000164794 UniProt: Q6PIU1 OMIM: 608164

This protein is a voltage-gated potassium channel subunit that modulates the activity of other potassium channels (KCNB1, KCNB2, KCNC4, and KCND1) by altering their inactivation properties and potentially reducing their function by retaining them in intracellular membranes. Mutations cause autosomal dominant epilepsy, typically with infantile or early childhood onset. KCNV1 is highly constrained against loss-of-function variants (pLI = 0.98, LOEUF = 0.30), indicating that functional copies are essential for normal neurological development.

OMIM ResearchSummary from RefSeq, UniProt

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

Multiple*

Mechanism· predicted