DISEASES

Disease-gene associations mined from literature

Literature associating CACNA2D1 and Timothy syndrome

CACNA2D1 [ENSP00000349320]

Calcium channel, voltage-dependent, alpha 2/delta subunit 1; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity).

Synonyms:  CACNA2D1,  E7ERK3,  O95026,  P54289,  Q9UDL7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM