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{{STRUCTURE_3gov| PDB=3gov | SCENE= }} | {{STRUCTURE_3gov| PDB=3gov | SCENE= }} | ||
===Crystal structure of the catalytic region of human MASP-1=== | |||
{{ABSTRACT_PUBMED_19564340}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/MASP1_HUMAN MASP1_HUMAN]] Defects in MASP1 are the cause of 3MC syndrome type 1 (3MC1) [MIM:[http://omim.org/entry/257920 257920]]. 3MC1 is a disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.<ref>PMID:21258343</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/MASP1_HUMAN MASP1_HUMAN]] Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or may cleave IGFBP5.<ref>PMID:11485744</ref><ref>PMID:17182967</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019564340</ref><references group="xtra"/> | <ref group="xtra">PMID:019564340</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Beinrohr, L.]] | [[Category: Beinrohr, L.]] | ||