Pathway
Defective ANO6 does not expose PS, PE on the platelet membrane
This Reactome event describes the defective scramblase activity of loss-of-function variants of anoctamin-6 (ANO6, also known as TMEM16F) ANO6 variants 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; Bouchaib AE et al., 2023).
REACT:R-HSA-9853846Reactome
What the reference databases state
Statements
1 statement
1 statement · 1 reference database · Subject: Defective ANO6 does not expose PS, PE on the platelet membrane · Sources: Reactome
- ANO6 participates in Defective ANO6 does not expose PS, PE on the platelet membraneProteinReactome R-HSA-9853846Inferred only