Calcium channel, voltage-dependent, T type, alpha 1H subunit

Function

This gene encodes Cav3.2, a T-type member of the α1 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 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 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.

Clinical significance

Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). Variants of Cav3.2 with increased channel activity contribute to susceptibility to idiopathic generalized epilepsy (IGE), but are not sufficient to induce epilepsy on their own. The SFARIgene database lists CACNA1H with an autism score of 2.1, indicating a candidate causal relationship with autism.

References

References

1. "Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit".
2. (July 1998). "Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family". Circ. Res..
3. (December 2005). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels". Pharmacol. Rev..
4. (August 2003). "Association between genetic variation of CACNA1H and childhood absence epilepsy". Ann. Neurol..
5. (December 2007). "Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants". Ann. Neurol..