DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1B and erythromelalgia

CACNA1B [ENSP00000360423]

Voltage-dependent N-type calcium channel subunit alpha-1B; 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-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by omega-conotoxin- GVIA (AC P01522) (AC P01522) (By similarity). They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons.

Synonyms:  CACNA1B,  CACNA1Bp,  hCACNA1B,  B1AQK6,  B1AQK7 ...

Linkouts:  STRING  Pharos  UniProt