ECM1

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]

Extracellular Matrix Protein 1

Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.

Angiogenesis Source: UniProtKB-KW
Biomineral tissue development Source: UniProtKB-KW
Chondrocyte development Source: Ensembl
Endochondral bone growth Source: Ensembl
Inflammatory response Source: Ensembl
Negative regulation of bone mineralization Source: UniProtKB
Negative regulation of cytokine-mediated signaling pathway Source: Ensembl
Negative regulation of peptidase activity Source: UniProtKB
Ossification Source: UniProtKB-KW
Positive regulation of angiogenesis Source: UniProtKB
Positive regulation of endothelial cell proliferation Source: UniProtKB
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
Regulation of bone mineralization Source: GO_Central
Regulation of T cell migration Source: Ensembl
Regulation of transcription by RNA polymerase II Source: Ensembl
Regulation of type 2 immune response Source: Ensembl
Signal transduction Source: InterPro

Extracellular matrix

Lipoid proteinosis (LiP):
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.