KCNA1, Official Symbol KCNA1provided by HGNC Official Full Name potassium voltage-gated channel subfamily A member 1provided by HGNC Primary source HGNC:HGNC:6218 See related Ensembl:ENSG00000111262 MIM:176260; AllianceGenome:HGNC:6218 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Biased expression in brain (RPKM 6.1) and thyroid (RPKM 0.3) See more Orthologs mouse all