Gene Symbol | MASP1 |
Entrez Gene ID | 5648 |
Full Name | mannan binding lectin serine peptidase 1 |
Synonyms | 3MC1,CRARF,CRARF1,MAP1,MASP,MASP3,MAp44,PRSS5,RaRF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]. |
Disorder MIM: | |
Disorder Html: | 3MC syndrome 1, 257920 (3) |