KCNA1

Chr 12AD

potassium voltage-gated channel subfamily A member 1

Also known as: AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1

NCBI Gene: 3736 ENSG00000111262 UniProt: Q09470 OMIM: 176260

This protein forms a voltage-gated delayed rectifier potassium channel that controls neuronal excitability through tetrameric complexes in cell membranes. Mutations cause episodic ataxia with myokymia syndrome through an autosomal dominant inheritance pattern. The pathogenic mechanism involves gain-of-function effects that disrupt normal potassium channel activity.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Episodic ataxia/myokymia syndromeMIM #160120

UniProtEpisodic ataxia 1

UniProtMyokymia isolated 1

Clinical highlights

Gene-disease validity (ClinGen)

episodic ataxia type 1 · ADDefinitivesufficient evidence for diagnostic panels

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.73

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — KCNA1