LZTFL1 — Leucine Zipper Transcription Factor Like 1

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

LZTFL1 (BBS17) encodes a protein that regulates BBSome ciliary trafficking. It acts as a negative regulator of the hedgehog signaling pathway by controlling BBSome-mediated ciliary trafficking of smoothened. Mutations cause Bardet-Biedl syndrome type 17.

Gene description: LZTFL1 (BBS17) encodes a protein that regulates BBSome ciliary trafficking. It acts as a negative regulator of the hedgehog signaling pathway by controlling BBSome-mediated ciliary trafficking of smoothened. Mutations cause Bardet-Biedl syndrome type 17.

Clinical significance: Mutations cause BBS17. LZTFL1 gained additional attention during COVID-19 as a risk locus for severe disease, though its BBS role relates to ciliary trafficking.

Inheritance: Autosomal Recessive