Extracellular matrix protein 1 ist ein Gen, das durch das Symbol ECM1 kodiert wird. Andere Namen sind: Secretory component p85; ECM1. Extracellular matrix protein 1 hat eine Masse von 60.67kDa, eine Aminosäurelänge von 540, und ist an Lipoid proteinosis beteiligt.
Wir bieten 12 antikörper gegen Extracellular matrix protein 1, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ICC/IF and FC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in breast cancer tissues. Little or no expression observed in normal breast tissues. Expressed in skin; wide expression is observed throughout the dermis with minimal expression in the epidermis.
Rolle bei Krankheiten
Lipoid proteinosis: 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.
Zellort
Secreted > Extracellular space > Extracellular matrix.
