Entrez Gene ID | 22915 |
---|---|
Official Gene Symbol | MMRN1 (GeneCards) |
Full name | multimerin 1 |
Location | 4q22.1 |
Other ids | Vega : OTTHUMG00000130947 MIM : 601456 HGNC : HGNC:7178 Ensembl : ENSG00000138722 |
Other names | ECM, MMRN, GPIa*, EMILIN4 |
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, Jul 2008] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
6186 | 22915 | MMRN1 | 4 | 90895663 | 90895663 | Asymptomatic | HiSeq X Ten |
7223 | 22915 | MMRN1 | 4 | 91034261 | 91034261 | Cockayne syndrome | HiSeq X Ten |
29761 | 22915 | MMRN1 | 4 | 90874301 | 90874301 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |