The MEGF8 gene provides instructions for making a protein whose function is unclear. Based on its structure, the Megf8 protein may be involved in cell processes such as attaching cells to one another (cell adhesion) and helping proteins interact with each other. Researchers also suspect that the Megf8 protein plays a role in the normal shaping (patterning) of many parts of the body during embryonic development.
At least six mutations in the MEGF8 gene have been found to cause Carpenter syndrome, a condition characterized by irregular skull formation, finger and toe abnormalities, and many other features. These mutations reduce or eliminate the function of the Megf8 protein. Researchers suspect that the amount of protein function that is retained may contribute to the variability in signs and symptoms. It is unclear how MEGF8 gene mutations cause Carpenter syndrome. The mutations likely interfere with normal patterning of many parts of the body, which contributes to the features of this disorder.
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