KCNA6

Chr 12

potassium voltage-gated channel subfamily A member 6

Also known as: HBK2, KV1.6, PPP1R96

NCBI Gene: 3742 ENSG00000151079 UniProt: P17658

KCNA6 encodes a voltage-gated potassium channel that forms tetrameric channels regulating potassium transport and neuronal excitability in the nervous system. Mutations cause early infantile epileptic encephalopathy with developmental delay, seizures, and intellectual disability, following an autosomal dominant inheritance pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.526), and the associated epileptic encephalopathy typically presents in infancy.

ResearchSummary from RefSeq, UniProt

Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]

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

0.53

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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