DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1F and osteogenesis imperfecta type 2

CACNA1F [ENSP00000365441]

Calcium channel, voltage-dependent, L type, alpha 1F subunit; Isoform 1: 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-1F 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). Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization; Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily.

Synonyms:  CACNA1F,  CACNA1Fp,  hCACNA1F,  CACNA1F-001,  CACNA1F-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM