基因名:
MMRN1
产品别名:
ECM; EMILIN4; GPIa*; MMRN; MMRN1; multimerin 1; multimerin 1; multimerin-1; EMILIN-4; elastin microfibril interface located protein 4; elastin microfibril interfacer 4; endothelial cell multimerin; glycoprotein Ia*; 内皮细胞MMRN1蛋白; 多聚蛋白1(MMRN1);
背景信息:
Multimerin-1 is a 1,228 amino acid secreted protein that contains one C1q domain, one EMI domain and one EGF-like domain. Synthesized in megakaryocytes and endothelial cells and present in liver, lung and placenta, Multimerin-1 exists as a multimeric structure composed of varying disulfide-linked multimers and functions as a carrier protein for platelet factors (specifically platelet factor V), playing a role in the stabilization and storage of factor V in platelets. In addition, Multimerin-1 acts as a ligand for select Integrins and may participate in extracellular matrix adhesion. Defects in the gene encoding Multimerin-1 that lead to Multimerin-1 deficiency are associated with autosomal dominant bleeding disorders due to platelet factor malfunction. Multiple isoforms of Multimerin-1 exist due to alternative splicing events.