Protein Domain : Extracellular matrix protein 1 IPR008605

Type  Family
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 [].
Short Name  ECM1

0 Child Features

0 Gene Families

0 Genes

2 Ontology Annotations

0 Parent Features

0 Publications

USDA
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