Revision as of 21:22, 28 September 2017 by en>ProteinBoxBot(←Created page with '{{Infobox_gene}} '''Anoctamin 6''' is a protein that in humans is encoded by the ANO6 gene. <ref name="entrez"> {{cite web | title = Entrez Gene: Anocta...')
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.
Suzuki J, Umeda M, Sims PJ, Nagata S (2010). "Calcium-dependent phospholipid scrambling by TMEM16F". Nature. 468 (7325): 834–8. doi:10.1038/nature09583. PMID21107324.
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. PMID21511967.
Suzuki J, Nagata S (2011). "[Phospholipid scrambling by TMEM16F]". Seikagaku (in Japanese). 83 (11): 1050–4. PMID22256604.CS1 maint: Unrecognized language (link)
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. PMID23426967.