Disease-gene associations mined from literature

Literature associating KCNMB3 and familial adult myoclonic epilepsy 5

KCNMB3 [ENSP00000319370]

Potassium large conductance calcium-activated channel, subfamily M beta member 3; Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Alters the functional properties of the current expressed by the KCNMA1 channel. Isoform 2, isoform 3 and isoform 4 partially inactivate the current of KCNBMA. Isoform 4 induces a fast and incomplete inactivation of KCNMA1 channel that is detectable only at large depolarizations. In contrast, isoform 1 does not induce detectable inactivation of KCNMA1. Two or more subunits of KCNMB3 are required to block the KCNMA1 tetramer.

Synonyms:  KCNMB3,  KCNMB3p,  hKCNMB3,  Q9NPA1,  KCNMB2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM