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KCNA1 / Kv1.1 is 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).
Gene Name: | potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) |
Family/Subfamily: | Ion Channel , Potassium channel - Kv1 Shaker |
Synonyms: | KCNA1, EA1, AEMK, HBK1, KV1.1, HUK1, RCK1, MK1, RBK1, MBK1 |
Target Sequences: | NM_000217 NP_000208.2 Q09470 |
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