DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1I and progressive myoclonus epilepsy 4

CACNA1I [ENSP00000385019]

Calcium channel, voltage-dependent, T type, alpha 1I 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. This channel 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. Gates in voltage ranges similar to, but higher than alpha 1G or alpha 1H (By similarity); Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1I subfamily.

Synonyms:  CACNA1I,  CACNA1Ip,  hCACNA1I,  CACNA1I-001,  CACNA1I-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM