Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, factor VIII is encoded by the F8 gene. Defects in this gene result in hemophilia A, a recessive X-linked coagulation disorder. Factor VIII is produced in liver sinusoidal cells and endothelial cells outside the liver throughout the body. This protein circulates in the bloodstream in an inactive form, bound to another molecule called von Willebrand factor, until an injury that damages blood vessels occurs. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor. The active protein interacts with another coagulation factor called factor IX. This interaction sets off a chain of additional chemical reactions that form a blood clot.
von Willebrand factor (VWF) is a blood glycoprotein involved in hemostasis. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic–uremic syndrome. Increased plasma levels in many cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may predict an increased risk of thrombosis.
Endoglin (ENG) is a type I membrane glycoprotein located on cell surfaces and is part of the TGF beta receptor complex. It is also commonly referred to as CD105, END, FLJ41744, HHT1, ORW and ORW1. It has a crucial role in angiogenesis, therefore, making it an important protein for tumor growth, survival and metastasis of cancer cells to other locations in the body.
Dystroglycan is a protein that in humans is encoded by the DAG1 gene.
CTGF, also known as CCN2 or connective tissue growth factor, is a matricellular protein of the CCN family of extracellular matrix-associated heparin-binding proteins. CTGF has important roles in many biological processes, including cell adhesion, migration, proliferation, angiogenesis, skeletal development, and tissue wound repair, and is critically involved in fibrotic disease and several forms of cancers.
Four and a half LIM domains protein 2 also known as FHL-2 is a protein that in humans is encoded by the FHL2 gene. LIM proteins contain a highly conserved double zinc finger motif called the LIM domain.
Platelet glycoprotein Ib alpha chain also known as glycoprotein Ib (platelet), alpha polypeptide or CD42b, is a protein that in humans is encoded by the GP1BA gene.
CD82, or KAI1, is a human protein encoded by the CD82 gene.
Laminin subunit alpha-5 is a protein that in humans is encoded by the LAMA5 gene.
Glycoprotein IX (platelet) (GP9) also known as CD42a, is a human gene.
Lysosomal-associated membrane protein 1 (LAMP-1) also known as lysosome-associated membrane glycoprotein 1 and CD107a, is a protein that in humans is encoded by the LAMP1 gene. The human LAMP1 gene is located on the long arm (q) of chromosome 13 at region 3, band 4 (13q34).
Protein AATF is a protein that in humans is encoded by the AATF gene.
Class E basic helix-loop-helix protein 40 is a protein that in humans is encoded by the BHLHE40 gene.
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 is an enzyme that in humans is encoded by the MAGI1 gene.
Matrilin-3 is a matrilin protein that in humans is encoded by the MATN3 gene.
Matrilin-2 is a matrilin protein that in humans is encoded by the MATN2 gene.
Matrilin 1, cartilage matrix protein, also known as MATN1, is a matrilin protein which in humans is encoded by the MATN1 gene.
Collagen, type XXVIII, alpha 1 also known as COL28A1 is a protein that in humans is encoded by the COL28A1 gene. This protein belongs to a class of collagens that contain von Willebrand factor type A domains. The protein is encoded by the COL28A1 gene which contains 45 exons and is found of the p arm of chromosome 7.
Von Willebrand factor, type C is a protein domain is found in various blood plasma proteins: complement factors B, C2, CR3 and CR4; the integrins (I-domains); collagen types VI, VII, XII and XIV; and other extracellular proteins.
Von Willebrand factor A domain containing 5A is a protein that in humans is encoded by the VWA5A gene.
