CACNA1B gene

calcium voltage-gated channel subunit alpha1 B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

From UniProt:

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.

From UniProt:

Dystonia 23 (DYT23): A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. [MIM:614860]

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3

Molecular Location: base pairs 137,877,782 to 138,124,619 on chromosome 9 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 9q34.3, which is the long (q) arm of chromosome 9 at position 34.3
  • BIII
  • CACNL1A5
  • Cav2.2
  • DYT23