Calcium channel, voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a protein which in humans is encoded by the ''CACNA1H'' gene.

Function

This gene encodes Ca_v3.2, 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 Alternative splicing, or alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to code for multiple proteins. In this process, particular exons of a gene may be ...

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 Childhood absence epilepsy (CAE), is one of the most frequent pediatric epilepsy syndromes. CAE is an idiopathic generalized epilepsy that occurs in otherwise normal children. The only seizure type at the time of diagnosis is the typical absence s ...

(CAE). Variants of Ca_v3.2 with increased channel activity contribute to susceptibility to

idiopathic generalized epilepsy Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a strong underlying genetic basis. Patients with an IGE subtype are typically otherwise normal and have no structural brain abnormalities. People als ...

(IGE), but are not sufficient to induce epilepsy on their own. The SFARIgene database lists CACNA1H with an

autism The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...

score of 2.1, indicating a candidate causal relationship with

Function

Clinical significance

See also

References

External links

Further reading