CACNA1H

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CACNA1H
Identifiers
Aliases CACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, calcium voltage-gated channel subunit alpha1 H
External IDs MGI: 1928842 HomoloGene: 56913 GeneCards: 8912
RNA expression pattern
PBB GE CACNA1H 205845 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001005407
NM_021098

NM_001163691
NM_021415

RefSeq (protein)

NP_001005407.1
NP_066921.2

n/a

Location (UCSC) Chr 16: 1.15 – 1.22 Mb Chr 17: 25.37 – 25.43 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[1][2][3]

Function[edit]

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.[1]

Clinical significance[edit]

Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE).[4] 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.[5] The SFARIgene database lists CACNA1H with an autism score of 2.1, indicating a candidate causal relationship with autism.

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit". 
  2. ^ Cribbs LL, Lee JH, Yang J, Satin J, Zhang Y, Daud A, Barclay J, Williamson MP, Fox M, Rees M, Perez-Reyes E (July 1998). "Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family". Circ. Res. 83 (1): 103–9. doi:10.1161/01.res.83.1.103. PMID 9670923. 
  3. ^ Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (December 2005). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels". Pharmacol. Rev. 57 (4): 411–25. doi:10.1124/pr.57.4.5. PMID 16382099. 
  4. ^ Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, Liu X, Jiang Y, Bao X, Yao Z, Ding K, Lo WH, Qiang B, Chan P, Shen Y, Wu X (August 2003). "Association between genetic variation of CACNA1H and childhood absence epilepsy". Ann. Neurol. 54 (2): 239–43. doi:10.1002/ana.10607. PMID 12891677. 
  5. ^ Heron SE, Khosravani H, Varela D, Bladen C, Williams TC, Newman MR, Scheffer IE, Berkovic SF, Mulley JC, Zamponi GW (December 2007). "Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants". Ann. Neurol. 62 (6): 560–8. doi:10.1002/ana.21169. PMID 17696120. 

Further reading[edit]

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