Extracellular matrix protein 1
Function
Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
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.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
Extracellular matrix protein 1, Secretory component p85, ECM1