ADAM metallopeptidase with thrombospondin type 1 motif 10
The ADAMTS10 gene provides instructions for making an enzyme that is found in many of the body's cells and tissues. This enzyme is part of a family of metalloproteases, which are zinc-containing enzymes that cut apart other proteins. Although the function of the ADAMTS10 enzyme is unknown, it is critical for growth before and after birth. Researchers believe that it may be involved in the development of structures including the skin, eyes, heart, and skeleton.
At least five mutations in the ADAMTS10 gene have been identified in people with Weill-Marchesani syndrome. Each of these mutations prevents the cell from producing any functional ADAMTS10 enzyme. Researchers speculate that a loss of this enzyme disrupts skeletal development, leading to short stature and unusually short fingers and toes (brachydactyly). A shortage of the ADAMTS10 enzyme also interferes with the development and function of the lens of the eye, causing eye abnormalities and impaired vision. Additionally, a lack of this enzyme may disrupt the normal development of the heart, resulting in the heart defects occasionally seen in people with Weill-Marchesani syndrome.
- a disintegrin and metalloproteinase with thrombospondin motifs 10
- a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10
- a disintegrin-like and metalloprotease domain with thrombospondin type I repeats 10
- ADAM metallopeptidase with thrombospondin type 1 motif, 10