F8

Official Full Name

coagulation factor VIII

Organism

Homo sapiens

GeneID

2157

Background

This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]

Synonyms

AHF; F8B; F8C; HEMA; FVIII; THPH13; DXS1253E;

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Detailed Information

Coagulation factor VIII (F8) is composed of glycoproteins synthesized in hepatic sinus endothelial cells and vascular endothelial cells, and plays a crucial role in hemostasis process. The F8 gene is located on the long arm of X chromosome (Xq28) and is about 186 KB in length, containing 26 exons and 25 introns.

Figure 1. Domain structure of F8 (From Dan Lu, 2018).

F8 and Cerebral Apoplexy

There are many causes of stroke, such as hypertension, cerebrovascular disease, diabetes, and hyperlipidemia. Among them, cerebrovascular disease is the main cause leading to stroke. Studies have found that F8 plays an important role in the process of cerebral vascular disease. With the development of research, it was found that brain tissue had secondary injury such as ischemia, inflammatory response, and apoptosis after stroke. Multiple studies have shown that F8, as the basic mediator of immune response, has a wide range of effects in the process of inflammatory injury after stroke. It can directly or indirectly participate in the activation and infiltration of inflammatory cells and plays an important role in the process of neuronal injury and repair.

F8 and DVT

F8 levels play an important role in the occurrence and development of deep vein thrombosis (DVT) in lower extremities, which promotes the formation of thrombosis. F8 is a globulin in plasma and is considered to be an anti-hemophilia factor or anti-hemophilia globulin. The protein is mainly synthesized by hepatocytes, involved in the activation of FX, and then promotes the formation of thrombin in the presence of calcium ions. Therefore, the plasma coagulation factor level should be detected as early as possible for patients with suspected lower limb DVT to eliminate gene mutation and polymorphism. Then, according to the test results, choose a reasonable treatment plan.

References:

Jiang Wen Li, et al. Clotting factor XIII and cytokine levels and the correlation analysis of cerebral apoplexy. Laboratory Medicine, 2017, 62-66.
Hui jun Yuan, et al. Plasma clotting factor V, VIII and protein C activity and the relationship between lower extremity deep vein thrombosis. Chinese Journal of Thrombosis and Hemostasis, 2017, 23-29.
Dan Lu, et al. Long-term human recombinant coagulation factor VIII research status and progress. Chinese Journal of Biotechnology, 2018, 34(1): 34-43.

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