In healthy individuals, anoctamin-6 (ANO6, also known as TME...
| created | [InstanceEdit:9854637] Shamovsky, Veronica, 2023-11-28 |
| dbId | 9854626 |
| displayName | In healthy individuals, anoctamin-6 (ANO6, also known as TME... |
| literatureReference |
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| modified | [InstanceEdit:9930885] Shamovsky, Veronica, 2024-12-06 |
| schemaClass | Summation |
| text | In healthy individuals, anoctamin-6 (ANO6, also known as TMEM16F) functions as a phospholipid scramblase in procoagulant platelets. ANO6 translocates negatively charged phosphatidylserine (PS) and phosphatidylethanolamine (PE) from the inner leaflet to the outer leaflet of the plasma membrane in a Ca2+-dependent manner (Suzuki J et al., 2010; reviewed by Kunzelmann K et al., 2014). Loss-of-function variants of ANO6 (TMEM16F) such as R419*, ANO6 W407Lfs*5 are associated with Scott syndrome, a rare inherited bleeding disorder caused by diminished PS exposure on the platelet surface (Suzuki J et al., 2010; Castoldi E et al., 2011; Boisseau P et al., 2018; Montague SJ et al., 2024). The defective scramblase activity and bleeding phenotype was also observed in Ano6-knockout mice, which serve as a model for Scott syndrome (Fujii T et al., 2015; Mattheij NJA et al., 2016). |
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