Anoctamin 6: Difference between revisions
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{{cite web | {{cite web | ||
| title = Entrez Gene: Anoctamin 6 | | title = Entrez Gene: Anoctamin 6 | ||
| url = | | url = https://www.ncbi.nlm.nih.gov/gene/196527 | ||
| accessdate = 2017-09-28 | | accessdate = 2017-09-28 | ||
}}</ref> | }}</ref> | ||
Latest revision as of 08:42, 20 December 2017
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| External IDs | GeneCards: [1] | ||||||
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| Location (UCSC) | n/a | n/a | |||||
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Anoctamin 6 is a protein that in humans is encoded by the ANO6 gene. [1]
Function
This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
References
- ↑ "Entrez Gene: Anoctamin 6". Retrieved 2017-09-28.
Further reading
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- Suzuki J, Umeda M, Sims PJ, Nagata S (2010). "Calcium-dependent phospholipid scrambling by TMEM16F". Nature. 468 (7325): 834–8. doi:10.1038/nature09583. PMID 21107324.
- Castoldi E, Collins PW, Williamson PL, Bevers EM (2011). "Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome". Blood. 117 (16): 4399–400. doi:10.1182/blood-2011-01-332502. PMID 21511967.
- Suzuki J, Nagata S (2011). "[Phospholipid scrambling by TMEM16F]". Seikagaku (in Japanese). 83 (11): 1050–4. PMID 22256604.
- Wei JC, Hsu YW, Hung KS, Wong RH, Huang CH, Liu YT, Guo YC, Ikegawa S, Chang WC (2013). "Association study of polymorphisms rs4552569 and rs17095830 and the risk of ankylosing spondylitis in a Taiwanese population". PLoS ONE. 8 (1): e52801. doi:10.1371/journal.pone.0052801. PMC 3537770. PMID 23308121.
- Shimizu T, Iehara T, Sato K, Fujii T, Sakai H, Okada Y (2013). "TMEM16F is a component of a Ca2+-activated Cl- channel but not a volume-sensitive outwardly rectifying Cl- channel". Am. J. Physiol., Cell Physiol. 304 (8): C748–59. doi:10.1152/ajpcell.00228.2012. PMID 23426967.
- Kmit A, van Kruchten R, Ousingsawat J, Mattheij NJ, Senden-Gijsbers B, Heemskerk JW, Schreiber R, Bevers EM, Kunzelmann K (2013). "Calcium-activated and apoptotic phospholipid scrambling induced by Ano6 can occur independently of Ano6 ion currents". Cell Death Dis. 4: e611. doi:10.1038/cddis.2013.135. PMC 3668637. PMID 23618909.
- Suzuki T, Suzuki J, Nagata S (2014). "Functional swapping between transmembrane proteins TMEM16A and TMEM16F". J. Biol. Chem. 289 (11): 7438–47. doi:10.1074/jbc.M113.542324. PMC 3953258. PMID 24478309.
- Ousingsawat J, Wanitchakool P, Schreiber R, Wuelling M, Vortkamp A, Kunzelmann K (2015). "Anoctamin-6 controls bone mineralization by activating the calcium transporter NCX1". J. Biol. Chem. 290 (10): 6270–80. doi:10.1074/jbc.M114.602979. PMC 4358264. PMID 25589784.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.