DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1D and Usher syndrome type 2D

CACNA1D [ENSP00000288139]

Calcium channel, voltage-dependent, L type, alpha 1D 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-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA); Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1D subfamily.

Synonyms:  CACNA1D,  CACNA1Dp,  hCACNA1D,  Q01668,  Q59GD8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM