Gene Symbol | CACNA1B |
Entrez Gene ID | 774 |
Full Name | calcium voltage-gated channel subunit alpha1 B |
Synonyms | BIII,CACNL1A5,CACNN,Cav2.2,DYT23 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Dystonia 23, 614860 (3) |