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MASP2

Function

Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase.

Involvement in disease

MASP2 deficiency

MASPD

A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.

Activated by cleavage after Arg-444. The uncleaved zymogen is inactive towards synthetic substrates, but has sufficient activity to effect autocatalytic cleavage.

Sequence Similarities

Belongs to the peptidase S1 family.

Tissue Specificity

Plasma.

Cellular localization

Alternative names

Mannan-binding lectin serine protease 2, MBL-associated serine protease 2, Mannose-binding protein-associated serine protease 2, MASP-2, MASP2

swissprot:O00187 entrezGene:10747 omim:605102