potassium calcium-activated channel subfamily M alpha 1
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Diagnostic Grade (Green)
Brain channelopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalParoxysmal central nervous system disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMonogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownGeneralized epilepsy - paroxysmal dyskinesia
generalized epilepsy-paroxysmal dyskinesia syndrome
Liang-Wang syndrome
cerebellar atrophy, developmental delay, and seizures
idiopathic generalized epilepsy
hereditary disease
myopia
osteoarthritis, hip
refractive error
injury
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Calcium-activated potassium channel subunit alpha-1
Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+) (PubMed:14523450, PubMed:29330545, PubMed:31152168). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of systems, such as regulation of the contraction of smooth muscle, the tuning of hair cells in the cochlea, regulation of transmitter release, and innate immunity. In smooth muscles, its activation by high level of Ca(2+), caused by ryanodine receptors in the sarcoplasmic reticulum, regulates the membrane potential. In cochlea cells, its number and kinetic properties partly determine the characteristic frequency of each hair cell and thereby helps to establish a tonotopic map. Kinetics of KCNMA1 channels are determined by alternative splicing, phosphorylation status and its combination with modulating beta subunits. Highly sensitive to both iberiotoxin (IbTx) and charybdotoxin (CTX). Possibly induces sleep when activated by melatonin and through melatonin receptor MTNR1A-dependent dissociation of G-beta and G-gamma subunits, leading to increased sensitivity to Ca(2+) and reduced synaptic transmission (PubMed:32958651)
KCNMA1 · Q12791
Mean pLDDT
76.0/ 100
Confident
1,236 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
