CACNA1A
| CACNA1A | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CACNA1A, APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6, Cav2.1, calcium voltage-gated channel subunit alpha1 A, EIEE42, DEE42 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601011; MGI: 109482; GeneCards: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Cav2.1, also known as P/Q voltage-dependent calcium channel, is a calcium channel that in humans is encoded by the CACNA1A gene.[5] Cav2.1 is highly expressed within the brain, where it is found on the presynaptic terminals of neurons in the cerebral cortex and cerebellum.[5]
Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons.[5] It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits.[6] The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it.[6]
Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit,[6] which is encoded by the CACNA1A gene.[a][5] Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.[5]
Clinical significance
[edit]Mutations in the CACNA1A gene are associated with multiple neurologic disorders, many of which are episodic, such as familial hemiplegic migraine, movement disorders such as episodic ataxia, and epilepsy with multiple seizure types.[8]
Interactions
[edit]Notes
[edit]References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000141837 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000034656 – 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.
- 1 2 3 4 5 Sutherland HG, Albury CL, Griffiths LR (21 June 2019). "Advances in genetics of migraine". The Journal of Headache and Pain. 20 (1) 72. doi:10.1186/s10194-019-1017-9. PMC 6734342. PMID 31226929.
- 1 2 3 "CACNA1A". Gene. National Center for Biotechnology Information. 16 March 2021. Retrieved 28 March 2021.
- ↑ "The Science of CACNA1A". CACNA1A Foundation. Retrieved 28 March 2021.
- ↑ Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies". Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID 31784983. S2CID 208498567.
- ↑ Walker D, Bichet D, Campbell KP, De Waard M (January 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit". The Journal of Biological Chemistry. 273 (4): 2361–7. doi:10.1074/jbc.273.4.2361. PMID 9442082.
- ↑ Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, et al. (April 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation". The Journal of Biological Chemistry. 274 (18): 12383–90. doi:10.1074/jbc.274.18.12383. PMID 10212211.
Further reading
[edit]- Jen JC (May 2015) [1993]. "Familial Hemiplegic Migraine". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. Seattle WA: University of Washington, Seattle. PMID 20301295. NBK1388.
- Spacey, Sian (December 2011). "Episodic Ataxia Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". Episodic Ataxia Type 2. University of Washington, Seattle. PMID 20301674. NBK1501. In GeneReviews
- Gomez, Christopher M (July 2013). Spinocerebellar Ataxia Type 6. University of Washington, Seattle. PMID 20301319. NBK1140. In GeneReviews
- CACNA1A+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
External links
[edit]- Patient groups