Defective ANO6 does not expose PS, PE on the platelet membrane

Stable Identifier
R-HSA-9853846
Type
Pathway
Species
Homo sapiens
Compartment
plasma membrane
ReviewStatus
3/5
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Defective ANO6 does not expose PS, PE on the platelet membrane
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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).
Literature References
PubMed ID Title Journal Year
27879994 A new mutation of ANO6 in two familial cases of Scott syndrome

Boisseau, P, Bene, MC, Besnard, T, Pachchek, S, Giraud, M, Talarmain, P, Robillard, N, Gourlaouen, MA, Bezieau, S, Fouassier, M

Br J Haematol 2018
21511967 Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome

Castoldi, E, Collins, PW, Williamson, PL, Bevers, EM

Blood 2011
21107324 Calcium-dependent phospholipid scrambling by TMEM16F

Suzuki, J, Umeda, M, Sims, PJ, Nagata, S

Nature 2010
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
blood coagulation disease DOID:1247 postpartum coagulation defect, postpartum coagulation defect with delivery
Cross References
Mondo
Authored
Shamovsky, V  (2023-11-21)
Created
Shamovsky, V  (2023-11-21)
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