CEP164 — Centrosomal Protein 164

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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