KCNA1

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]

Description

potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)

Protein family

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Voltage-gated ion channels

Chromosome

12:p13.32 (5019071 - 5040527)

Ensembl ID

ENSG00000111262  (ver. 71.37)

Orthologs

Mouse Kcna1: ENSMUSG00000047976

Human splice variants
Mouse splice variants