ADAMTS17

ADAMTS17 is a protein that in humans is encoded by the ADAMTS17 gene. ADAMTS17 belongs to the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family of proteins. These proteins are known to have a wide range of functions, including the breakdown of extracellular matrix, inhibition of angiogenesis, and the control of organogenesis.

Function

ADAMTS17 is a member of the ADAMTS family of proteins. These proteins are secreted enzymes that have a variety of biological functions. They are involved in the processing of procollagen molecules, the degradation of the extracellular matrix, and the inhibition of angiogenesis. ADAMTS17, like other members of the ADAMTS family, is believed to play a role in organogenesis and developmental processes.

Clinical significance

Mutations in the ADAMTS17 gene have been associated with several medical conditions. These include Weill-Marchesani syndrome, a rare genetic disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities. Mutations in ADAMTS17 have also been linked to primary open-angle glaucoma, one of the leading causes of blindness worldwide.

See also

• ADAMTS
• Weill-Marchesani syndrome
• Glaucoma

References

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