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Official Full Name: extracellular matrix protein 1
Also known as: URBWD
This gene encodes a soluble protein involved in endochondral bone formation, angiogenesis and tumor biology. It also interacts with a variety of extracellular and structural proteins to help maintain skin integrity and homeostasis. Mutations in this gene are associated with lipoproteinosis (also known as hyalinosis of the skin and mucous membranes or Urbach-Wiethe disease), which is characterized by widespread thickening of the skin, mucous membranes, and certain internal organs. Alternative splicing transcript variants encoding different isoforms have been described for this gene.