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ECM1 is 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.
Gene Name: | extracellular matrix protein 1 |
Synonyms: | ECM1, Extracellular matrix protein 1, Secretory component p85 |
Target Sequences: | NM_004425 NP_004416.2 Q16610 |
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