The MASP1 gene provides instructions for making proteins that are involved in a series of steps called the lectin complement pathway. This pathway is thought to help direct the movement (migration) of cells during development before birth to form the organs and systems of the body. It appears to be particularly important in directing the migration of neural crest cells. These cells give rise to various tissues including many tissues in the face and skull, the glands that produce hormones (endocrine glands), and portions of the nervous system. After birth, the lectin complement pathway is involved in the immune system.
Proteins called MASP-1, MASP-3, and MAp44 can be produced from the MASP1 gene, depending on how the gene’s instructions are pieced together. These proteins differ at one end of their structure. The MASP-1 and MASP-3 proteins have different versions of regions called serine protease domains, while the MAp44 protein has no serine protease domain. Researchers are studying whether these proteins play different roles in the lectin complement pathway.
Other Names
3MC1; complement factor MASP-3; complement-activating component of Ra-reactive factor; CRARF; CRARF1; mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor); mannose-binding lectin-associated serine protease 1; mannose-binding protein-associated serine protease; MAP1; MAp44; MASP; MASP3; PRSS5; Ra-reactive factor serine protease p100; RaRF; serine protease 5
Related Genetics Topics
Identifiers
- NCBI Gene: 5648
- OMIM: 600521
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
