Description
CPAMD8 belongs to the complement component-3 (C3) / alpha-2-macroglobulin (A2M) family of proteins, which are involved in innate immunity and damage control. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. By genomic sequence analysis, the CPAMD8 gene is mapped to chromosome 19p13.3-p13.2