Reactome | Retention of A2 polypeptide is required for normal stability...

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created	[InstanceEdit:9672398] Shamovsky, Veronica, 2019-12-25
dbId	9672394
displayName	Retention of A2 polypeptide is required for normal stability...
literatureReference	[LiteratureReference:9662327] Hemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy [LiteratureReference:9670046] Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo
modified	[InstanceEdit:9674513] Shamovsky, Veronica, 2020-01-13
schemaClass	Summation
text	Retention of A2 polypeptide is required for normal stability of activated factor VIII (FVIIIa) and dissociation of A2 correlates with FVIIIa inactivation and consequent loss of FXase activity. Hemophilia A (HA)-associated mutations (R550H, A303E, S308L, N713I, R717W and R717L) within the predicted A1-A2 and A2-A3 interface are thought to disrupt potential intersubunit hydrogen bonds and have the molecular phenotype of increased rate of inactivation of FVIIIa due to increased rate of A2 subunit dissociation (Pipe SW et al. 1999; Hakeos WH et al. 2002)

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