IFT74 — Intraflagellar Transport 74

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

IFT74 (BBS20) encodes a core component of the IFT-B complex that is essential for ciliogenesis. It forms a tubulin-binding module with IFT81 that transports tubulin to the ciliary tip for axoneme assembly.

Gene description: IFT74 (BBS20) encodes a core component of the IFT-B complex that is essential for ciliogenesis. It forms a tubulin-binding module with IFT81 that transports tubulin to the ciliary tip for axoneme assembly.

Clinical significance: Mutations cause BBS20. Only the second case was reported in 2020, making it one of the rarest BBS subtypes.

Inheritance: Autosomal Recessive