ADAMTS10 : ADAM metallopeptidase with thrombospondin type 1 motif 10

The Enigmatic ADAMTS10: Unraveling the Mysteries of Growth and Development

Description

The human body is a complex symphony of cells and tissues, each orchestrated by intricate genetic instructions. Among these instructions lies the fascinating gene known as ADAMTS10. This gene holds the blueprint for an enzyme, a molecular scissor that snips apart other proteins. As part of the metalloprotease family, ADAMTS10 relies on zinc ions to perform its cutting-edge function.

Intriguingly, despite its widespread presence in the body, the exact role of the ADAMTS10 enzyme remains an enigma. However, researchers have tantalizing clues suggesting its critical involvement in the growth and development of various structures, including the skin, eyes, heart, and skeleton.

Associated Diseases

While the precise function of ADAMTS10 is yet to be fully understood, its absence can have profound consequences. Mutations in the ADAMTS10 gene have been linked to a rare genetic condition known as Weill-Marchesani syndrome. This syndrome is characterized by a distinctive constellation of features, including short stature, joint stiffness, eye problems, and a characteristic facial appearance.

Did you Know ?

Weill-Marchesani syndrome is an exceptionally rare condition, affecting approximately 1 in 500,000 individuals worldwide. Its rarity underscores the vital role of ADAMTS10 in human development.