CACNA2D1
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| Location (UCSC) | Chr 7: 81.95 – 82.44 Mb | Chr 5: 16.14 – 16.58 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
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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.[5][6]
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
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.[7][8][9]
See also
- Voltage-dependent calcium channel
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000153956 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040118 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8188232.
- ^ a b "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1".
- PMID 18590620.
- PMID 27069626.
- PMID 24133248.
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. S2CID 39341712.
- 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. 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. 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. S2CID 33257989.
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 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. 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. S2CID 147295966.
- 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. PMID 12477932.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. 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. 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. 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. 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. PMID 17438119.
External links
- CACNA2D1+protein,+human at the U.S. 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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