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 Platelet activation, signaling and aggregation. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MMRN2.
UniProtKB/Swiss-Prot 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.