Gene Symbol | KCNA1 |
Entrez Gene ID | 3736 |
Full Name | potassium voltage-gated channel subfamily A member 1 |
Synonyms | AEMK,EA1,HBK1,HUK1,KV1.1,MBK1,MK1,RBK1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Episodic ataxia/myokymia syndrome, 160120 (3) |