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FLASH GENE

Symbol

F8

contributors: mct - updated : 22-02-2017

HGNC name	coagulation factor VIII, procoagulant component (hemophilia A)
HGNC id	3546

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

F8D , DUPXQ28D

related resource

The Haemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   FVIII levels above the 75(th) percentile are associated with a significant odds ratio for the occurrence of venous thromboembolism

Susceptibility

risk factor for venous thromboembolism

Variant & Polymorphism

Candidate gene
Marker
Therapy target	use of VWF in conjunction with F8 in the management of patients with haemophilia A (Lacroix-Desmazes 2008)

ANIMAL & CELL MODELS

	multiple eye defects and developmental alteractions in chimeric and transgenic mice are produced by a motif implicated in cell adhesion
	F VIII deficient mice (Vanden Driessche, 99)
	endothelial cells from multiple, but not all, tissues contribute to the plasma F8 pool in the mouse