IFT27 — Intraflagellar Transport 27

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

IFT27 (BBS19) encodes a small GTPase component of the intraflagellar transport (IFT) complex B. It is required for BBSome-mediated export of signaling receptors from cilia and for proper hedgehog signaling.

Gene description: IFT27 (BBS19) encodes a small GTPase component of the intraflagellar transport (IFT) complex B. It is required for BBSome-mediated export of signaling receptors from cilia and for proper hedgehog signaling.

Clinical significance: Mutations cause BBS19. Identified in a consanguineous family, linking IFT machinery directly to BBS pathogenesis.

Inheritance: Autosomal Recessive