Gene Symbol | CACNA1D |
Entrez Gene ID | 776 |
Full Name | calcium voltage-gated channel subunit alpha1 D |
Synonyms | CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3,PASNA,SANDD |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. |
Disorder MIM: | |
Disorder Html: | Sinoatrial node dysfunction and deafness, 614896 (3); Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3) |