Aliases for MMRN1 Gene
External Ids for MMRN1 Gene
Previous HGNC Symbols for MMRN1 Gene
Previous GeneCards Identifiers for MMRN1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for MMRN1 Gene
MMRN1 (Multimerin 1) is a Protein Coding gene. Diseases associated with MMRN1 include Quebec Platelet Disorder and Blood Platelet Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is EMILIN2.
UniProtKB/Swiss-Prot Summary for MMRN1 Gene
Carrier protein for platelet (but not plasma) factor V/Va. Plays a role in the storage and stabilization of factor V in platelets. Upon release following platelet activation, may limit platelet and plasma factor Va-dependent thrombin generation. Ligand for integrin alpha-IIb/beta-3 and integrin alpha-V/beta-3 on activated platelets, and may function as an extracellular matrix or adhesive protein.