靶标:
CACNA1H
产品别名:
CACNA1HB; Cav3.2; ECA6; EIG6; HALD4; CACNA1H; calcium voltage-gated channel subunit alpha1 H; calcium voltage-gated channel subunit alpha1 H; voltage-dependent T-type calcium channel subunit alpha-1H; calcium channel, voltage-dependent, T type, alpha 1H subunit; calcium channel, voltage-dependent, T type, alpha 1Hb subunit; low-voltage-activated calcium channel alpha1 3.2 subunit; low-voltage-activated calcium channel alpha13.2 subunit; voltage dependent t-type calcium channel alpha-1H subunit; voltage-gated calcium channel alpha subunit Cav3.2; voltage-gated calcium channel alpha subunit CavT.2; voltage-gated calcium channel subunit alpha Cav3.2; T-型电压依赖钙离子通道α1H亚基(CACNa1H);
背景信息:
calcium voltage-gated channel subunit alpha1 H(CACNA1H) Homo sapiens This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008],