ADAMTS7P1

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ADAMTS7P1: A Proteolytic Enzyme Involved in Tissue Homeostasis and Disease

Description

ADAMTS7P1 (A Disintegrin and Metalloproteinase with Thrombospondin Type 1 Motif, 7 Propeptide) is a secreted protease belonging to the ADAMTS (A Disintegrin And Metalloproteinase with Thrombospondin motifs) family. ADAMTS7P1 is primarily expressed in endothelial cells and plays a crucial role in extracellular matrix (ECM) remodeling and tissue homeostasis.

The ADAMTS7P1 protein consists of several domains, including a prodomain, a metalloprotease domain, a disintegrin-like domain, and a thrombospondin type 1 (TSP1) domain. The prodomain is responsible for maintaining the enzyme in an inactive state, while the metalloprotease domain contains the catalytic site that cleaves specific protein substrates. The disintegrin-like domain mediates cell-cell interactions, and the TSP1 domain facilitates interactions with ECM components.

Associated Diseases

ADAMTS7P1 has been implicated in the pathogenesis of various diseases, including:

• Thoracic Aortic Aneurysms and Dissections (TAADs): ADAMTS7P1 deficiency or dysfunction is a significant risk factor for TAADs, a life-threatening condition characterized by the weakening and bulging of the aorta.

• Osteoarthritis (OA): ADAMTS7P1 is involved in the degradation of cartilage components, and its dysregulation has been associated with OA, a degenerative joint disease characterized by cartilage loss and pain.

• Cancer: ADAMTS7P1 has been shown to promote tumor growth, invasion, and metastasis in certain types of cancer, including colorectal cancer and breast cancer.

Did you Know ?

According to a large-scale study, individuals with mutations in the ADAMTS7P1 gene have a 20-fold increased risk of developing thoracic aortic aneurysms and dissections.