CFAP418 — Cilia And Flagella Associated Protein 418

Illustration of the eye cross-section showing the retina at the back of the eye
Illustration of the eye cross-section showing the retina at the back of the eye

CFAP418 (BBS26, formerly C10orf67) encodes a ciliary protein most recently identified as a BBS gene. It is involved in ciliary function though its precise molecular role is still being characterized.

Gene description: CFAP418 (BBS26, formerly C10orf67) encodes a ciliary protein most recently identified as a BBS gene. It is involved in ciliary function though its precise molecular role is still being characterized.

Clinical significance: Mutations cause BBS26. One of the most recently identified BBS genes, expanding the genetic heterogeneity of the syndrome.

Inheritance: Autosomal Recessive