collectin subfamily member 11
The COLEC11 gene provides instructions for making a protein called CL-K1. This protein is involved in a series of reactions called the lectin complement pathway, which is thought to help direct the movement (migration) of cells during early development before birth to form the organs and systems of the body. The lectin complement pathway appears to be particularly important in directing the migration of neural crest cells, which give rise to various tissues including many tissues in the face and skull, glands that produce hormones (endocrine glands), and portions of the nervous system. After birth, the lectin complement pathway is involved in the immune system.
At least five COLEC11 gene mutations have been identified in people with 3MC syndrome, a disorder characterized by unusual facial features and a variety of problems affecting other tissues and organs of the body. The COLEC11 gene mutations that cause 3MC syndrome impair or eliminate the function of the CL-K1 protein, resulting in faulty control of cell migration in embryonic development and leading to the various abnormalities that occur in this disorder. Researchers suggest that the existence of parallel pathways in the immune system that can compensate for problems in the lectin complement pathway account for the absence of immune system problems in 3MC syndrome.
- collectin K1
- collectin kidney protein 1