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IFT27 — Intraflagellar Transport 27

A Race Against Blindness: funding sight-saving research for children with Bardet-Biedl syndrome and inherited retinal diseases
A Race Against Blindness: funding sight-saving research for children with Bardet-Biedl syndrome and inherited retinal diseases

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