ADAMTSgeenejä

ADAMTSgeenejä, also known as ADAMTS genes, are a family of genes that encode for proteins involved in the regulation of blood coagulation and fibrinolysis. These genes are part of the ADAMTS (A Disintegrin and Metalloprotease with ThromboSpondin type 1 motif) family, which includes 13 members in humans. Each ADAMTS gene produces a specific protein that plays a crucial role in maintaining the balance between blood clotting and clot dissolution.

ADAMTS proteins are characterized by their ability to cleave specific substrates, such as von Willebrand factor (VWF) and fibrin. This cleavage is essential for preventing excessive blood clotting and for dissolving existing clots. The ADAMTS family includes proteins like ADAMTS1, ADAMTS2, ADAMTS3, ADAMTS4, ADAMTS5, ADAMTS6, ADAMTS7, ADAMTS8, ADAMTS9, ADAMTS10, ADAMTS12, ADAMTS13, and ADAMTS15.

Mutations in ADAMTS genes can lead to inherited bleeding disorders, such as von Willebrand disease and thrombotic thrombocytopenic purpura. These disorders result from a deficiency or dysfunction of the ADAMTS proteins, leading to abnormal blood clotting and bleeding tendencies. Understanding the role of ADAMTS genes and proteins is essential for the diagnosis and management of these conditions.