CEP164 — Centrosomal Protein 164

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

CEP164 (BBS25) encodes a distal appendage protein of the mother centriole that is critical for ciliogenesis initiation. It recruits vesicles to the distal appendages and is required for the initial steps of primary cilium formation.

Gene description: CEP164 (BBS25) encodes a distal appendage protein of the mother centriole that is critical for ciliogenesis initiation. It recruits vesicles to the distal appendages and is required for the initial steps of primary cilium formation.

Clinical significance: Mutations cause BBS25 and nephronophthisis type 15. Essential for the earliest steps of cilia formation.

Inheritance: Autosomal Recessive