Description
MMRN1, also known as Multimerin-1, has 2 isoforms, a 1,228 amino acid long isoform that is 138 kDa and a short 531 amino acid isoform that is 58 kDa; synthesized by endothelial cells and megakaryocytes: stored in platelet alpha granules and endothelial cell Weibel-Palade bodies; can be found in vascular tissues such as placenta, lung, and liver. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers; it is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V and as an extracellular matrix or adhesive protein. Studies on this protein have shown a relationship with the following diseases and disorders: bleeding disorder, quebec platelet disorder, neonatal alloimmune thrombocytopenia, von Willebrand's disease, polycythemia vera, myocardial infarction, atrial fibrillation, thrombocytopenia, polycythemia, vascular disease, diabetic retinopathy, thrombosis, periodontitis, periodontal disease, hepatitis b, Parkinson's disease, vaginitis, asthma, and colorectal cancer. The MMRN1 protein has also shown an interaction with CDKN2A, F5, APC, A2M, ALB, and 30 other proteins in hemostasis, platelet degranulation, platelet activation, signaling and aggregation, and response to elevated platelet cytosolic Ca2+ pathways.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
|
| Product By Gene ID |
22915 |
| Alternate Names |
- ECMmultimerin
- Elastin microfibril interface located protein 4
- Elastin microfibril interfacer 4
- EMILIN-4
- EMILIN4GPIa*
- Endothelial cell multimerin
- glycoprotein Ia*
- GPIA*
- MMRN
- multimerin 1
- multimerin-1
|
