BBIP1 — BBSome Interacting Protein 1

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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