Defective factor IX causes thrombophilia

Stable Identifier
R-HSA-9672383
Type
Pathway
Species
Homo sapiens
Compartment
extracellular region, plasma membrane
Synonyms
Hyperactivation of factor X by FIXa R384L
ReviewStatus
5/5
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Defective factor IX causes thrombophilia
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In healthy individuals factor IXa (FIXa), in a complex with factor VIIIa on the surfaces of activated platelets, catalyzes the formation of activated factor X with high efficiency. A substitution of leucine for arginine at residue 384 in FIX (FIX R384L, also know as FIX Padua) is a gain-of-function mutation that resulted in elevated FIX clotting activity in a patient with venous thrombosis (Simioni P et al. 2009).
Literature References
PubMed ID Title Journal Year
19846852 X-linked thrombophilia with a mutant factor IX (factor IX Padua)

Simioni, P, Tormene, D, Tognin, G, Gavasso, S, Bulato, C, Iacobelli, NP, Finn, JD, Spiezia, L, Radu, C, Arruda, VR

N. Engl. J. Med. 2009
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
thrombophilia DOID:2452 hypercoagulability state
Cross References
Mondo
BioModels Database
Authored
Shamovsky, V  (2019-09-09)
Reviewed
D'Eustachio, P  (2020-01-09)
Zhang, B  (2020-04-02)
Created
Shamovsky, V  (2019-12-25)
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