Aliases for CACNA1D Gene
External Ids for CACNA1D Gene
Previous HGNC Symbols for CACNA1D Gene
Previous GeneCards Identifiers for CACNA1D Gene
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]
GeneCards Summary for CACNA1D Gene
CACNA1D (Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit) is a Protein Coding gene. Diseases associated with CACNA1D include aldosterone-producing adenoma with seizures and neurological abnormalities and sinoatrial node dysfunction and deafness. Among its related pathways are MAPK signaling pathway and Developmental Biology. GO annotations related to this gene include ion channel activity and ankyrin binding. An important paralog of this gene is SCN1A.
UniProtKB/Swiss-Prot for CACNA1D Gene
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-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA).
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.