ECM1, Official Symbol ECM1provided by HGNC Official Full Name extracellular matrix protein 1provided by HGNC Primary source HGNC:HGNC:3153 See related Ensembl:ENSG00000143369 MIM:602201; AllianceGenome:HGNC:3153 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as URBWD Summary 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] Expression Biased expression in esophagus (RPKM 332.0), gall bladder (RPKM 47.3) and 3 other tissues See more Orthologs mouse all