Biology:CACNA1H
 Generic protein structure example |
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
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
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
References
- ↑ 1.0 1.1 "Entrez Gene: CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8912.
- ↑ "Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family". Circ. Res. 83 (1): 103–9. July 1998. doi:10.1161/01.res.83.1.103. PMID 9670923.
- ↑ "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels". Pharmacol. Rev. 57 (4): 411–25. December 2005. doi:10.1124/pr.57.4.5. PMID 16382099.
- ↑ "Association between genetic variation of CACNA1H and childhood absence epilepsy". Ann. Neurol. 54 (2): 239–43. August 2003. doi:10.1002/ana.10607. PMID 12891677.
- ↑ "Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants". Ann. Neurol. 62 (6): 560–8. December 2007. doi:10.1002/ana.21169. PMID 17696120.
External links
- Human CACNA1H genome location and CACNA1H gene details page in the UCSC Genome Browser.
Further reading
- "The 'window' T-type calcium current in brain dynamics of different behavioural states.". J. Physiol. 562 (Pt 1): 121–9. 2005. doi:10.1113/jphysiol.2004.076273. PMID 15498803.
- "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.". Pharmacol. Rev. 57 (4): 411–25. 2006. doi:10.1124/pr.57.4.5. PMID 16382099.
- "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family.". Circ. Res. 83 (1): 103–9. 1998. doi:10.1161/01.res.83.1.103. PMID 9670923.
- "Structure and functional characterization of a novel human low-voltage activated calcium channel.". J. Neurochem. 72 (2): 791–9. 1999. doi:10.1046/j.1471-4159.1999.0720791.x. PMID 9930755.
- "Molecular characterization of two members of the T-type calcium channel family.". Ann. N. Y. Acad. Sci. 868: 131–43. 1999. doi:10.1111/j.1749-6632.1999.tb11283.x. PMID 10414291.
- "T-type alpha 1H Ca2+ channels are involved in Ca2+ signaling during terminal differentiation (fusion) of human myoblasts.". Proc. Natl. Acad. Sci. U.S.A. 97 (13): 7627–32. 2000. doi:10.1073/pnas.97.13.7627. PMID 10861024.
- "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16.". Hum. Mol. Genet. 10 (4): 339–52. 2001. doi:10.1093/hmg/10.4.339. PMID 11157797.
- "Identification and localization of T-type voltage-operated calcium channel subunits in human male germ cells. Expression of multiple isoforms.". J. Biol. Chem. 277 (10): 8449–56. 2002. doi:10.1074/jbc.M105345200. PMID 11751928.
- "Overexpression of an alpha 1H (Cav3.2) T-type calcium channel during neuroendocrine differentiation of human prostate cancer cells.". J. Biol. Chem. 277 (13): 10824–33. 2002. doi:10.1074/jbc.M108754200. PMID 11799114.
- "Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability.". J. Physiol. 540 (Pt 1): 3–14. 2002. doi:10.1113/jphysiol.2001.013269. PMID 11927664.
- "A T-type calcium channel required for normal function of a mammalian mechanoreceptor.". Nat. Neurosci. 6 (7): 724–30. 2003. doi:10.1038/nn1076. PMID 12808460.
- "T-type calcium channel regulation by specific G-protein betagamma subunits.". Nature 424 (6945): 209–13. 2003. doi:10.1038/nature01772. PMID 12853961.
- "The gating and conductance properties of Cav3.2 low-voltage-activated T-type calcium channels.". Jpn. J. Physiol. 53 (3): 165–72. 2004. doi:10.2170/jjphysiol.53.165. PMID 14529577.
- "A mechanism for the direct regulation of T-type calcium channels by Ca2+/calmodulin-dependent kinase II.". J. Neurosci. 23 (31): 10116–21. 2003. doi:10.1523/JNEUROSCI.23-31-10116.2003. PMID 14602827.
- "Abnormal coronary function in mice deficient in alpha1H T-type Ca2+ channels.". Science 302 (5649): 1416–8. 2003. doi:10.1126/science.1089268. PMID 14631046.
- "Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.". J. Biol. Chem. 279 (11): 9681–4. 2004. doi:10.1074/jbc.C400006200. PMID 14729682.
- "The sequence and analysis of duplication-rich human chromosome 16.". Nature 432 (7020): 988–94. 2005. doi:10.1038/nature03187. PMID 15616553.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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