Biology:CACNA2D1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.[1][2]
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.[2]
Gabapentinoids
Alpha-2/delta proteins are believed to be the molecular target of the gabapentinoids gabapentin and pregabalin, which are used to treat epilepsy and neuropathic pain.[3][4][5]
See also
- Voltage-dependent calcium channel
References
- ↑ "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. Jun 1994. doi:10.1006/geno.1994.1044. PMID 8188232. https://zenodo.org/record/1229596.
- ↑ 2.0 2.1 "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=781.
- ↑ "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. July 2008. doi:10.1007/s11910-008-0053-7. PMID 18590620.
- ↑ Patel, Ryan; Dickenson, Anthony H. (2016-04-01). "Mechanisms of the gabapentinoids andα2δ-1 calcium channel subunit in neuropathic pain" (in en). Pharmacology Research & Perspectives 4 (2): e00205. doi:10.1002/prp2.205. ISSN 2052-1707. PMID 27069626.
- ↑ Patel, Ryan; Bauer, Claudia S.; Nieto-Rostro, Manuela; Margas, Wojciech; Ferron, Laurent; Chaggar, Kanchan; Crews, Kasumi; Ramirez, Juan D. et al. (2013-10-16). "α2δ-1 Gene Deletion Affects Somatosensory Neuron Function and Delays Mechanical Hypersensitivity in Response to Peripheral Nerve Damage". Journal of Neuroscience 33 (42): 16412–16426. doi:10.1523/jneurosci.1026-13.2013. PMID 24133248.
Further reading
- "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. 1992. doi:10.1016/0896-6273(92)90109-Q. PMID 1309651.
- "Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel.". Science 241 (4873): 1661–4. 1988. doi:10.1126/science.2458626. PMID 2458626. Bibcode: 1988Sci...241.1661E.
- "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. 1994. doi:10.1093/hmg/3.6.969. PMID 7951247.
- "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.". Neuropharmacology 32 (11): 1089–102. 1994. doi:10.1016/0028-3908(93)90004-M. PMID 8107964.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- "Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2).". Genomics 61 (2): 201–9. 1999. doi:10.1006/geno.1999.5941. PMID 10534405.
- "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. 2001. doi:10.1152/jn.2001.85.2.816. PMID 11160515.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. 2003. doi:10.1038/nature01782. PMID 12853948. Bibcode: 2003Natur.424..157H.
- "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. 2004. doi:10.1074/jbc.M308991200. PMID 14602720.
- "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070–80. 2006. doi:10.1021/pr0502065. PMID 16335952.
- "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. 2007. doi:10.1161/CIRCULATIONAHA.106.668392. PMID 17224476.
- "Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.". J. Gen. Physiol. 129 (5): 385–401. 2007. doi:10.1085/jgp.200709749. PMID 17438119.
External links
- CACNA2D1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human CACNA2D1 genome location and CACNA2D1 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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