Extracellular matrix protein 1 est un gène codé par le symbole ECM1. D'autres noms incluent: Secretory component p85; ECM1. Extracellular matrix protein 1 a une masse de 60.67kDa, une longueur d'acide aminé de 540, et est impliqué dans Lipoid proteinosis.
Nous proposons 12 des anticorps contre Extracellular matrix protein 1, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.
Résumé Entrez
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.
Spécificité tissulaire
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.
Implication dans la maladie
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.
Localisation cellulaire
Secreted > Extracellular space > Extracellular matrix.
