CFAP410 gene encodes cilia- and flagella-associated protein 410. This protein is suggested to have a role in the formation and maintenance of cilia and ciliary cargo transport. It has also been hypothesized to have a role in the regulation of cell morphology, and cytoskeletal organization, particularly in the retina.
Defects in CFAP410 are associated with retinitis pigmentosa with skeletal defects, as in the case of Spondylometaphyseal Dysplasia Axial (Axial SMD), as well as with non-syndromic cone rod dystrophy. In addition, mutations in this gene have been associated with Jeune Syndrome, a form of short-rib thoracic dysplasia characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof.