MASP2 Gene

The MASP2 gene (MASP2 stands for "MBL Associated Serine Protease 2") is a protein(serine protease) coding gene localized to chromosome 1p36.22. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

The MASP2 gene encodes a member of the peptidase S1 family of serine proteases. This serine protease plays an important role in the activation of the complement system via mannose-binding lectin. The encoded preprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease.

MASP2 protease and complement cascade: The mature protease cleaves complement components C2 and C4 to generate a C3 convertase in the lectin pathway of the complement system (alternative pathway of the complement cascade).

MASP2 protease and coagulation cascade: The mature protease also plays a role in the coagulation cascade by cleaving prothrombin to thrombin. Patients with myocardial infarction and acute stroke have reduced serum concentrations of the encoded protein.

Diseases associated with MASP2 include Masp2 deficiency and mannose-binding lectin deficiency. Related pathways include immune response, lectin-induced complement pathway, and innate immune system.

1. Sokolowska A et al. (2015) Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control. Cell Molec Immun 12: 119-121.
2. St. Swierzko A et al. (2009) Mannan-binding lectin-associated serine protease-2 (MASP-2) in a large cohort of neonates and its clinical associations. Molec. Immun. 46: 1696-1701.
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4. Thiel S et al (2007) Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. Genes Immun 8: 154-163.