ECM1 Antibody – Rabbit Polyclonal

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]

ECM1: Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity. Defects in ECM1 are the cause of lipoid proteinosis (LiP); also known as lipoid proteinosis of Urbach and Wiethe or hyalinosis cutis et mucosae. LiP is a rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 1q21

Cellular Component: extracellular matrix; extracellular region; extracellular space; proteinaceous extracellular matrix

Molecular Function: enzyme binding; interleukin-2 receptor binding; laminin binding; protease binding; protein binding; protein C-terminus binding; signal transducer activity

Biological Process: angiogenesis; biomineral formation; inflammatory response; negative regulation of bone mineralization; negative regulation of cytokine and chemokine mediated signaling pathway; negative regulation of peptidase activity; ossification; platelet degranulation; positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of T-helper 2 type immune response; regulation of transcription from RNA polymerase II promoter; signal transduction

Disease: Lipoid Proteinosis Of Urbach And Wiethe