Gene Symbol | KCNMA1 |
Entrez Gene ID | 3778 |
Full Name | potassium calcium-activated channel subfamily M alpha 1 |
Synonyms | BKTM,CADEDS,KCa1.1,MaxiK,PNKD3,SAKCA,SLO,SLO-ALPHA,SLO1,bA205K10.1,hSlo,mSLO1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | MaxiK 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, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3); ?Cerebellar atrophy, developmental delay, and seizures, 617643 (3) |