MASP2

Chr 1

MBL associated serine protease 2

Also known as: MAP-2, MAP19, MASP-2, MASP1P1, sMAP

NCBI Gene: 10747 ENSG00000009724 UniProt: O00187

This serine protease activates the lectin pathway of the complement system by cleaving complement components C2 and C4 to generate C3 convertase, and also participates in coagulation by converting prothrombin to thrombin. Autosomal recessive mutations cause MASP2 deficiency, which results in immune system dysfunction due to impaired complement activation. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…