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Giornale Italiano di Dermatologia e Venereologia 2005 August;140(4):397-406


language: English

Extracellular matrix protein 1: a newly discovered glycoprotein with an important role in skin biology

Chan I. 1, Hamada T. 2, Oyama N. 3, Wessagowit V. 1, McGrath J. A. 1

1 Genetic Skin Disease Group St John’s Institute of Dermatology Division of Skin Sciences Guy’s, King’s College and St Thomas’ Hospitals’ Medical School, St Thomas’ Hospital, London, UK 2 Department of Dermatology Kurume University School of Medicine, Kurume, Japan 3 Department of Dermatology Fukushima Medical University School of Medicine Fukushima, Japan


Extracellular matrix protein 1 (ECM1) is a glycoprotein found in many tissues, including skin. First discovered in 1994, its function in skin biology was largely unknown until 2002 when it was identified as the candidate gene/protein for the autosomal recessive disease, lipoid proteinosis. This inherited disorder is characterised clinically by skin and mucosal infiltration and scarring, and histologically by disruption or duplication of basement membrane, as well as widespread deposition of hyaline material in the dermis. Over 30 pathogenic mutations in the ECM1 gene have been characterised, with recurrent mutations, ancestral alleles, genotype-phenotype correlation and new diagnostic techniques now established for this rare genodermatosis. Further insight into the role of ECM1 in human skin was revealed in 2003 with the discovery of circulating autoantibodies against the ECM1 protein in the sera of most patients with lichen sclerosus, a common chronic inflammatory condition that shares some clinicopathological features with lipoid proteinosis. These autoantibodies have been characterised and the immunodominant epitope isolated, and a new ELISA test for lichen sclerosus is currently being evaluated. Protein-protein interaction studies have identified that ECM1 binds to the major heparan sulphate proteoglycan, perlecan, as well as to matrix metalloproteinase 9, epidermal growth factor, and legumain. These findings, in combination with the lipoid proteinosis and lichen sclerosus data, suggest that ECM1 has a key role in several aspects of epidermal differentiation, maintaining dermal architecture, and regulating basement membrane composition. Clearly, the newly discovered glycoprotein ECM1 has an important function in skin biology.

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