ECM1

Also known as URBWD, extracellular matrix protein 1

protein-coding gene in the species Homo sapiens

Gene data

ECM1

Name: extracellular matrix protein 1
Type: protein-coding
Aliases: URBWD

This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011].

via MyGene.info