CFAP410

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats.

CILIA AND FLAGELLA ASSOCIATED PROTEIN 410

Plays a role in cilia formation and/or maintenance (By similarity).
Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987).
Involved in DNA damage repair (PubMed:26290490).

Cilium assembly Source: GO_Central
Cytoskeleton organization Source: UniProtKB
DNA damage response, detection of DNA damage Source: UniProtKB
Regulation of cell shape Source: UniProtKB

Cytoplasm; Cilium basal body; Mitochondrion; Photoreceptor outer segment. Colocalizes with NEK1 and SPATA7 at the basal body.

Retinal dystrophy with or without macular staphyloma (RDMS): An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients.
Spondylometaphyseal dysplasia, axial (SMDAX): A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora.