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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, and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif. 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.
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Protein Aliases: MGC126782; MGC138385; potassium channel, voltage gated shaker related subfamily A, member 1; Potassium voltage-gated channel subfamily A member 1; potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia); Voltage-gated K(+) channel HuKI; Voltage-gated potassium channel HBK1; Voltage-gated potassium channel subunit Kv1.1
Gene Aliases: AEMK; EA1; HBK1; HUK1; KCNA1; KV1.1; MBK1; MK1; RBK1
UniProt ID: (Human) Q09470
Entrez Gene ID: (Human) 3736
Molecular Function: voltage-gated ion channel