GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: KCNMA1

id3778
symbolKCNMA1
organismHomo sapiens
full namepotassium calcium-activated channel subfamily M alpha 1
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, 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]
variant-disease

NM_002247.3(KCNMA1):c.1749+11G>A AND Generalized epilepsy and paroxysmal dyskinesia

NM_002247.3(KCNMA1):c.*423_*425delGTT AND Generalized epilepsy and paroxysmal dyskinesia

NM_001014797.2(KCNMA1):c.2104C>T (p.Leu702Phe) AND not provided

NM_002247.3(KCNMA1):c.*1957C>T AND Generalized epilepsy and paroxysmal dyskinesia

NM_002247.3(KCNMA1):c.182T>C (p.Val61Ala) AND Generalized epilepsy and paroxysmal dyskinesia

... 231 more


Partner site online screenshot taker on site-shot.com.