ADAMTS2
ADAMTS2 is a gene that provides instructions for making a protein involved in the processing of collagen, a key component of connective tissues in the body. This protein helps to regulate the structure and function of collagen fibers, which are essential for maintaining the strength and elasticity of tissues such as skin, cartilage, and blood vessels.
Mutations in the ADAMTS2 gene can lead to various connective tissue disorders, including Ehlers-Danlos syndrome, which is characterized by hyper-flexible joints and fragile skin. Understanding the role of ADAMTS2 is important for developing potential treatments for these conditions and improving patient care.