Aliases for ECM1 Gene
External Ids for ECM1 Gene
Previous GeneCards Identifiers for ECM1 Gene
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]
GeneCards Summary for ECM1 Gene
ECM1 (Extracellular Matrix Protein 1) is a Protein Coding gene. Diseases associated with ECM1 include Lipoid Proteinosis Of Urbach And Wiethe and Lichen Sclerosus. Among its related pathways are Cell adhesion_Cell-matrix glycoconjugates and ERK Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein C-terminus binding.
UniProtKB/Swiss-Prot Summary for ECM1 Gene
Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.