Defective F8 accelerates dissociation of the A2 domain

Stable Identifier
R-HSA-9672387
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Pathway
Species
Homo sapiens
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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)

Literature References
Participants
Participant Of
Disease
Name Identifier Synonyms
factor VIII deficiency 12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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