{"symbol":"KCNA1","synonyms":["KV1.1","MBK1","HBK1","RBK1","HUK1","MK1","AEMK"],"name":"potassium channel, voltage gated shaker related subfamily A, member 1","description":"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]","ncbiEntrezGeneId":3736,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3736","proteins":[{"symbol":"KCNA1_HUMAN","href":"/api/1.0/protein/KCNA1_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}