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KCNMA1 potassium calcium-activated channel subfamily M alpha 1

Also known as: SLO; BKTM; SLO1; hSlo; MaxiK; SAKCA; mSLO1; KCa1.1; SLO-ALPHA; bA205K10.1

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Generalized epilepsy and paroxysmal dyskinesia
MedGen: C1836173OMIM: 609446GeneReviews: Not available
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Genomic context

Location:
10q22.3
Sequence:
Chromosome: 10; NC_000010.11 (76869601..77637819, complement)
Total number of exons:
45

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