Calcium channel, voltage-dependent, T type, alpha 1H subunit, also known as CACNA1H, is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

which in humans is encoded by the ''CACNA1H''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

This gene encodes Ca_v3.2, a T-type member of the α₁ subunit family, a protein in the

voltage-dependent calcium channel Voltage-gated calcium channels (VGCCs), also known as voltage-dependent calcium channels (VDCCs), are a group of voltage-gated ion channels found in the membrane of excitable cells (''e.g.'' muscle, glial cells, neurons) with a permeability t ...

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

isoform A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...

s of each of the proteins in the complex, either encoded by different genes or the result of

alternative splicing Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ...

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 Ca_v3.2 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 Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing d ...

score of 2.1, indicating a candidate causal relationship with

Function

Clinical significance

See also

References

External links

Further reading