MASP1 Antibody – Rabbit Polyclonal

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]

MASP1: 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. Defects in MASP1 are the cause of 3MC syndrome type 1 (3MC1). 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. Belongs to the peptidase S1 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; EC 3.4.21.-; Protease; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 3q27-q28

Cellular Component: extracellular space; extracellular region

Molecular Function: peptidase activity; protein binding; protein homodimerization activity; serine-type endopeptidase activity; calcium ion binding; calcium-dependent protein binding

Biological Process: receptor-mediated endocytosis; negative regulation of complement activation; innate immune response; complement activation, lectin pathway; proteolysis; complement activation

Disease: 3mc Syndrome 1