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gene: KCNA6

id3742
symbolKCNA6
organismHomo sapiens
full namepotassium voltage-gated channel subfamily A member 6
summaryPotassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class. The coding region of this gene is intronless, and the gene is clustered with genes KCNA1 and KCNA5 on chromosome 12. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 12p13.32(chr12:4930100-4954591)x1 AND not provided

chr12:4920767-5603935 complex variant AND Ductal breast carcinoma

GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3 AND See cases

GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3 AND See cases

GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1 AND See cases

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