DISEASES

Disease-gene associations mined from literature

Literature associating CACNB4 and juvenile myoclonic epilepsy

CACNB4 [ENSP00000438949]

Voltage-dependent L-type calcium channel subunit beta-4; The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Synonyms:  CACNB4,  CACNB4p,  hCACNB4,  C9J224,  E7DBM8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM