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KCNA1 potassium voltage-gated channel subfamily A member 1

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

Summary

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]

Genomic context

Location:
12p13.32
Sequence:
Chromosome: 12; NC_000012.12 (4909907..4918256)
Total number of exons:
2

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