Entrez gene ID | | 22915 |
Official gene symbol | | MMRN1 |
Full name | | multimerin 1 |
Aliases | | ,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. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4q22 |
Gene position | | 90816052 - 90875780 Map Viewer |
Gene orientation | | plus |
Gene size | | 59729 bp |
Gene sequence |
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OMIM ID | | 601456 |
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