DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1A and dentatorubral-pallidoluysian atrophy

CACNA1A [ENSP00000353362]

Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin- IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA); Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1A subfamily.

Synonyms:  CACNA1A,  CACNA1Ap,  hCACNA1A,  LOC100507353,  B5TYJ1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM