T-type Ca++ CP α1H Polyclonal Antibody

disease:Defects in CACNA1H are a cause of susceptibility to idiopathic generalized epilepsy type 6 (IGE6) [MIM:611942]. IGE is characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. IGE6 is a polygenic and multifactorial disease.,domain:Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.,function: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.,PTM:In response to raising of intracellular calcium, the T-type channels are activated by CaM-kinase II.,similarity:Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family.,tissue specificity:Expressed in kidney, liver, heart, brain. Isoform 2 seems to be testis-specific.,