Multimerin 1

Alternative Names

  • MMRN1
  • MMRN
  • Endothelial Cell Multimerin
  • ECM

Associated Diseases

Spermatogenic Failure 1
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OMIM Number

601456

NCBI Gene ID

22915

Uniprot ID

Q13201

Length

75,104 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Multimerin-1

Molecular Mass

138110 Da

Amino Acid Count

1228

Genomic Location

chr4:89,879,511-89,954,614

Gene Map Locus
4q22.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007351.3:c.3454G>ASaudi ArabiaNC_000004.12:g.89953185G>ALikely PathogenicSpermatogenic Failure 1NG_032895.2:g.78654G>A; NM_007351.3:c.3454G>A; NP_031377.2:p.Glu1152Lys536978530
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