Gene: MMRN1

Alternate names for this Gene: ECM|EMILIN4|GPIa*|MMRN

Gene Summary: Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin.

Gene is located in Chromosome: 4

Location in Chromosome : 4q22.1

Description of this Gene: multimerin 1

Type of Gene: protein-coding

rs3775478 in MMRN1 gene and Parkinson Disease PMID 22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.