EMC1 gene

The ECM1 gene (ECM1 stands for: Extracellular Matrix Protein 1) is a protein coding gene located on chromosome 1q21.2. Alternatively spliced transcript variants encoding different isoforms have been described for the ECM1 gene.

The ECM1 gene encodes a soluble protein involved in endochondral bone formation, angiogenesis, and tumor biology. This protein interacts with a variety of extracellular and structural proteins and contributes to the maintenance of skin integrity and homeostasis. The protein is involved in endochondral bone formation as a negative regulator of bone mineralization. It stimulates proliferation of endothelial cells and promotes angiogenesis. Furthermore, it inhibits the proteolytic activities of MMP9.

Mutations in this gene are associated with hyalinosis cutis et mucosae, also known as Urbach-Wiethe disease, a systemic disorder characterized by generalized thickening of skin and mucous membranes.

In lichen sclerosus, serum autoantibodies against extracellular matrix protein 1 (ECM1) can be detected. This suggests that the EMC1 protein plays a role in the pathogenesis of this disease (Utsunomiya N eg al. 2020).

1. Chan I (2004) The role of extracellular matrix protein 1 in human skin. Clin Exp Dermatol 29:52-56.
2. Utsunomiya N eg al. (2020) Gene silencing of extracellular matrix protein 1 (ECM1) results in phenotypic alterations of dermal fibroblasts reminiscent of clinical features of lichen sclerosus. J Dermatol Sci 100:99-109.