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Antibody detects endogenous levels of total CACNA1H.
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).
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蛋白别名: A1H-b; calcium channel alpha13.2 subunit; calcium channel, voltage-dependent, T type, alpha 1H subunit; calcium channel, voltage-dependent, T type, alpha 1Hb subunit; FLJ90484; Low-voltage-activated calcium channel alpha1 3.2 subunit; low-voltage-activated calcium channel alpha13.2 subunit; T-type Cav3.2; voltage dependent t-type calcium channel alpha-1H subunit; Voltage-dependent T-type calcium channel subunit alpha-1H; voltage-gated calcium channel alpha subunit Cav3.2; voltage-gated calcium channel alpha subunit CavT.2; Voltage-gated calcium channel subunit alpha Cav3.2
基因别名: alpha13.2; CACNA1H; CACNA1HB; Cav3.2; ECA6; EIG6; MNCb-1209
UniProt ID: (Human) O95180, (Rat) Q9EQ60
Entrez Gene ID: (Human) 8912, (Rat) 114862, (Mouse) 58226