CACNA1H

Calcium channel, voltage-dependent, T type, alpha 1H subunit
Identifiers
Symbols	CACNA1H ; CACNA1HB; Cav3.2; ECA6; EIG6
External IDs	OMIM: 607904 MGI: 1928842 HomoloGene: 56913 IUPHAR: 536 ChEMBL: 1859 GeneCards: CACNA1H Gene
Gene ontology Molecular function • low voltage-gated calcium channel activity • metal ion binding • scaffold protein binding Cellular component • plasma membrane • voltage-gated calcium channel complex • caveola • integral component of membrane • sarcolemma Biological process • transport • muscle contraction • axon guidance • muscle organ development • myoblast fusion • regulation of heart contraction • aldosterone biosynthetic process • cellular response to hormone stimulus • ion transmembrane transport • cortisol biosynthetic process • regulation of ion transmembrane transport • cellular response to potassium ion • regulation of membrane potential • calcium ion import • calcium ion transmembrane transport • membrane depolarization during action potential • positive regulation of acrosome reaction Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8912	58226
Ensembl	ENSG00000196557	ENSMUSG00000024112
UniProt	O95180	E9Q6P9
RefSeq (mRNA)	NM_001005407	NM_001163691
RefSeq (protein)	NP_001005407	NP_001157163
Location (UCSC)	Chr 16: 1.15 – 1.22 Mb	Chr 17: 25.37 – 25.43 Mb
PubMed search	[1]	[2]

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 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 score of 2.1, indicating a candidate causal relationship with autism.

See also

• T-type calcium channel

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.