MMRN1
Description
The MMRN1 (multimerin 1) is a protein-coding gene located on chromosome 4.
MMRN1 encodes multimerin 1, also known as elastin microfibril interfacer 4 (EMILIN-4). This protein is found in platelets and the endothelium of blood vessels. It is composed of subunits connected by disulfide bonds, forming large, variable-sized homomultimers. Multimerin is a factor V/Va-binding protein and may act as a carrier for platelet factor V. It might also have roles as an extracellular matrix or adhesive protein. Individuals with a rare autosomal-dominant bleeding disorder (factor V Quebec/Quebec Platelet Disorder) were found to have a deficiency of platelet multimerin.
MMRN1 is also known as ECM, EMILIN4, GPIa*, MMRN.
Associated Diseases
- Parkinson disease
- esophageal cancer
- cancer
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
