Disease-gene associations mined from literature

Literature associating KCNMB1 and episodic ataxia type 4

KCNMB1 [ENSP00000274629]

Potassium large conductance calcium-activated channel, subfamily M, beta member 1; 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. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate.

Synonyms:  KCNMB1,  KCNMB1p,  hKCNMB1,  Q16558,  Q16558p ...

Linkouts:  STRING  Pharos  UniProt  OMIM