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Genes in the COLEC gene family provide instructions for making proteins called collectins. Each collectin protein combines with two other identical proteins to form a protein group called a trimer. The trimers can further combine with each other to form larger structures, which seem to have increased function.
The proteins in this group play important roles in the innate immune response, which is the body's early response to foreign invaders (pathogens). Collectin proteins have specific functional regions for which the group is named: each protein has a collagen-like region and a lectin region. The lectin region recognizes and attaches (binds) to sugars that are found on the surface of bacteria, viruses, and yeast. The binding of the collectin protein to the pathogen turns on (activates) the complement system, which is a group of proteins that work together to destroy pathogens, trigger inflammation, and remove debris from cells and tissues. The collagen-like region helps with complement activation and stimulates immune cells to engulf and break down the attached pathogen. In addition, collectin proteins can help bind together (aggregate) many pathogens, which makes them unable to infect cells and easier to be removed from the body.
Because collectins are involved in the immune response, mutations in these genes can cause susceptibility to infections or autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of this member of the COLEC gene family: MBL2.
Genetics Home Reference includes these conditions related to genes in the COLEC gene family:
You may find the following resources about the COLEC gene family helpful.
aggregate ; autoimmune ; bacteria ; collagen ; gene ; immune response ; immune system ; inflammation ; mannose ; pathogen ; protein ; soluble ; susceptibility
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the COLEC gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.