CACNA1H
Encyclopedia
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
.
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
s 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.
(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.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the CACNA1H gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
This gene encodes, Cav3.2, a T-type member of the α1 subunit family, a protein in the voltage-dependent calcium channelVoltage-dependent calcium channel
Voltage-dependent calcium channels are a group of voltage-gated ion channels found in excitable cells with a permeability to the ion Ca2+...
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
Protein isoform
A protein isoform is any of several different forms of the same protein. Different forms of a protein may be produced from related genes, or may arise from the same gene by alternative splicing. A large number of isoforms are caused by single-nucleotide polymorphisms or SNPs, small genetic...
s of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA 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 epilepsyChildhood absence epilepsy
Childhood absence epilepsy , also known as pyknolepsy, is an idiopathic generalized epilepsy which occurs in otherwise normal children. The age of onset is between 4–10 years with peak age between 5–7 years. Children have absence seizures which although brief , they occur frequently, sometimes in...
(CAE). Variants of Cav3.2 with increased channel activity contribute to susceptibility to idiopathic generalized epilepsy
Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 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 anatomical brain abnormalities. Patients also often have a family history of epilepsy and seem to...
(IGE), but are not sufficient to induce epilepsy on their own.