The ADAMTS13 gene provides instructions for making an enzyme that is involved in regulating blood clotting. After an injury, clots normally protect the body by sealing off damaged blood vessels and preventing further blood loss.
The ADAMTS13 enzyme processes a large protein called von Willebrand factor. This protein is involved in the first step of blood clotting at the site of injury, which is to help cells called platelets stick together and attach to the walls of blood vessels, forming temporary clots. The ADAMTS13 enzyme cuts von Willebrand factor into smaller pieces to regulate its interaction with platelets. By processing von Willebrand factor in this way, the enzyme prevents it from triggering the formation of blood clots in normal circulation.
Other Names
ADAM metallopeptidase with thrombospondin type 1 motif, 13; ADAMTS-13; ATS13_HUMAN; C9orf8; von Willebrand factor-cleaving protease; vWF-cleaving protease; vWF-CP; VWFCP
Related Genetics Topics
Identifiers
- NCBI Gene: 11093
- OMIM: 604134
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
