BBIP1 — BBSome Interacting Protein 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

BBIP1 (BBS18) encodes a small protein that is a core component of the BBSome complex. It stabilizes cytoplasmic microtubules through acetylation and is required for BBSome assembly and ciliary membrane biogenesis.

Gene description: BBIP1 (BBS18) encodes a small protein that is a core component of the BBSome complex. It stabilizes cytoplasmic microtubules through acetylation and is required for BBSome assembly and ciliary membrane biogenesis.

Clinical significance: Mutations cause BBS18. Despite being a small protein, it is essential for BBSome integrity and microtubule stability in ciliated cells.

Inheritance: Autosomal Recessive