DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1H and focal epilepsy

CACNA1H [ENSP00000334198]

Calcium channel, voltage-dependent, T type, alpha 1H subunit; 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-1H gives rise to T-type calcium currents. T-type calcium channels belong to the "low-voltage activated (LVA)" group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia; Calcium voltage-gated channel alpha1 subunits

Synonyms:  CACNA1H,  CACNA1Hp,  hCACNA1H,  O95180,  Q9NYY6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM