DISEASES

Disease-gene associations mined from literature

Literature associating CACNB2 and Timothy syndrome

CACNB2 [ENSP00000320025]

Voltage-dependent L-type calcium channel subunit beta-2; 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:  CACNB2,  CACNB2p,  hCACNB2,  A6PVM6,  Q08289 ...

Linkouts:  STRING  Pharos  UniProt  OMIM