CACNA1D gene

calcium voltage-gated channel subunit alpha1 D

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

From NCBI 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]

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-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).

From NCBI Gene:

  • Sinoatrial node dysfunction and deafness
  • Primary aldosteronism, seizures, and neurologic abnormalities

From UniProt:

Sinoatrial node dysfunction and deafness (SANDD): A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. [MIM:614896]

Primary aldosteronism, seizures, and neurologic abnormalities (PASNA): A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. [MIM:615474]

Cytogenetic Location: 3p14.3, which is the short (p) arm of chromosome 3 at position 14.3

Molecular Location: base pairs 53,495,049 to 53,813,151 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p14.3, which is the short (p) arm of chromosome 3 at position 14.3
  • CACH3
  • CACN4
  • CACNL1A2
  • Cav1.3
  • CCHL1A2
  • PASNA
  • SANDD