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MMRN1

Synonyms
ECM, EMILIN4, GPIa*, MMRN
External resources
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
15
Likely pathogenic
0
VUS
3,485
Likely benign
571
Benign
0

Patient phenotypes

Proportions of phenotypes among 15 patients carring pathogenic or likely pathogenic variants on MMRN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
53.3%
Abnormality of the musculoskeletal system
26.7%
Abnormality of limbs
20%
Abnormality of the digestive system
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the cardiovascular system
13.3%
Growth abnormality
13.3%
Abnormality of blood and blood-forming tissues
6.7%
Abnormality of head or neck
6.7%
Abnormality of the ear
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the integument
6.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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