Disease-gene associations mined from literature

Literature associating CACNA1B and Lambert-Eaton myasthenic syndrome

CACNA1B [ENSP00000360423]

Calcium channel, voltage-dependent, N type, alpha 1B 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-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin- IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons; Calcium voltage-gated channel alpha1 subunits

Synonyms:  CACNA1B,  CACNA1Bp,  hCACNA1B,  B1AQK4,  B1AQK6 ...

Linkouts:  STRING  Pharos  UniProt