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gene: KCNMB4

id27345
symbolKCNMB4
organismHomo sapiens
full namepotassium calcium-activated channel subfamily M regulatory beta subunit 4
summaryMaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]
variant-disease

GRCh37/hg19 12q15(chr12:70588735-71366869)x1 AND See cases

GRCh38/hg38 12q15(chr12:70029314-70599455)x1 AND See cases

GRCh38/hg38 12q15-21.1(chr12:70051305-71116195)x1 AND See cases

GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1 AND See cases

GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 AND See cases

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