This gene encodes Cav3.2, a T-type member of the α1 subunit family, a protein in thevoltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of α1, α2δ, β, and γ subunits in a 1:1:1:1 ratio. The α1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multipleisoforms of each of the proteins in the complex, either encoded by different genes or the result ofalternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here.[5]
Studies suggest certain mutations in this gene lead tochildhood absence epilepsy (CAE).[8] Variants of Cav3.2 with increased channel activity contribute to susceptibility toidiopathic generalized epilepsy (IGE), but are not sufficient to induce epilepsy on their own.[9] The SFARIgene database lists CACNA1H with anautism score of 2.1, indicating a candidate causal relationship withautism.
^Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (December 2005). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels".Pharmacol. Rev.57 (4):411–25.doi:10.1124/pr.57.4.5.PMID16382099.S2CID10386627.
Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (2006). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels".Pharmacol. Rev.57 (4):411–25.doi:10.1124/pr.57.4.5.PMID16382099.S2CID10386627.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction".Anal. Biochem.236 (1):107–13.doi:10.1006/abio.1996.0138.PMID8619474.
Shin JB, Martinez-Salgado C, Heppenstall PA, Lewin GR (2003). "A T-type calcium channel required for normal function of a mammalian mechanoreceptor".Nat. Neurosci.6 (7):724–30.doi:10.1038/nn1076.PMID12808460.S2CID10255854.
