基因名:
ECM1
产品别名:
URBWD; ECM1; extracellular matrix protein 1; extracellular matrix protein 1; extracellular matrix protein 1; secretory component p85; testicular tissue protein Li 61; 细胞外基质蛋白1; 细胞外基质蛋白1(ECM1);
背景信息:
Extracellular matrix protein 1 (ECM1) 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.