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Protein Domain : Extracellular matrix protein 1

Primary Identifier  IPR008605 Type  Family
Short Name  ECM1
description  This family consists of several eukaryotic extracellular matrix protein 1 (ECM1) sequences. ECM1 has been shown to regulate endochondral bone formation, stimulate the proliferation of endothelial cells and induce angiogenesis [, ]. Mutations in the ECM1 gene can cause lipoid proteinosis, a disorder which causes generalised thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness [].

0 Child Features

0 Parent Features

28 Protein Domain Regions