| mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) | OKDB#: 2630 |
| Symbols: | MASP1 | Species: | human | ||
| Synonyms: | 3MC1, MAP1, MASP, RaRF, CRARF, MASP3, MAp44, PRSS5, CRARF1 | Locus: | 3q27-q28 in Homo sapiens |
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| General Comment |
This gene is in the complement and coagulation cascade.
NCBI 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] |
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| Comment | Found in an ovulation array. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Oct. 23, 2004, 5:37 p.m. | by: |
hsueh email:
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| last update: | Nov. 20, 2015, 12:52 p.m. | by: | hsueh email: |
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