CACNA2D1
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Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.[4][5]
This gene encodes a member of the alpha-2/delta 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 alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.[5]
Gabapentinoids
alpha2/delta proteins are believed to be the molecular target of the gabapentinoids gabapentin and pregabalin, which are used to treat epilepsy and neuropathic pain.[6]
See also
References
- ↑ "Diseases that are genetically associated with CACNA2D1 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Powers PA, Scherer SW, Tsui LC, Gregg RG, Hogan K (Jun 1994). "Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis". Genomics. 19 (1): 192–3. doi:10.1006/geno.1994.1044. PMID 8188232.
- 1 2 "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1".
- ↑ Rogawski MA, Bazil CW (July 2008). "New molecular targets for antiepileptic drugs: alpha(2)delta, SV2A, and K(v)7/KCNQ/M potassium channels". Curr Neurol Neurosci Rep. 8 (4): 345–52. doi:10.1007/s11910-008-0053-7. PMC 2587091
. PMID 18590620.
Further reading
- Williams ME, Feldman DH, McCue AF, et al. (1992). "Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.". Neuron. 8 (1): 71–84. doi:10.1016/0896-6273(92)90109-Q. PMID 1309651.
- Ellis SB, Williams ME, Ways NR, et al. (1988). "Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel.". Science. 241 (4873): 1661–4. doi:10.1126/science.2458626. PMID 2458626.
- Iles DE, Lehmann-Horn F, Scherer SW, et al. (1994). "Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.". Hum. Mol. Genet. 3 (6): 969–75. doi:10.1093/hmg/3.6.969. PMID 7951247.
- Brust PF, Simerson S, McCue AF, et al. (1994). "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.". Neuropharmacology. 32 (11): 1089–102. doi:10.1016/0028-3908(93)90004-M. PMID 8107964.
- "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Schleithoff L, Mehrke G, Reutlinger B, Lehmann-Horn F (1999). "Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2).". Genomics. 61 (2): 201–9. doi:10.1006/geno.1999.5941. PMID 10534405.
- Bell DC, Butcher AJ, Berrow NS, et al. (2001). "Biophysical properties, pharmacology, and modulation of human, neuronal L-type (alpha(1D), Ca(V)1.3) voltage-dependent calcium currents.". J. Neurophysiol. 85 (2): 816–27. PMID 11160515.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature. 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Stotz SC, Barr W, McRory JE, et al. (2004). "Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit.". J. Biol. Chem. 279 (5): 3793–800. doi:10.1074/jbc.M308991200. PMID 14602720.
- Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
- Antzelevitch C, Pollevick GD, Cordeiro JM, et al. (2007). "Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.". Circulation. 115 (4): 442–9. doi:10.1161/CIRCULATIONAHA.106.668392. PMC 1952683. PMID 17224476.
- Chaudhuri D, Issa JB, Yue DT (2007). "Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.". J. Gen. Physiol. 129 (5): 385–401. doi:10.1085/jgp.200709749. PMC 2154375. PMID 17438119.
External links
- CACNA2D1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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