SDCCAG8 — Serologically Defined Colon Cancer Antigen 8

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SDCCAG8 (BBS16) encodes a centrosomal protein that localizes to the centrioles and the centrosome-cilium interface. Mutations cause BBS16 and nephronophthisis type 10, with retinal-renal involvement being a hallmark.

Gene description: SDCCAG8 (BBS16) encodes a centrosomal protein that localizes to the centrioles and the centrosome-cilium interface. Mutations cause BBS16 and nephronophthisis type 10, with retinal-renal involvement being a hallmark.

Clinical significance: Mutations cause BBS16 and Senior-Løken syndrome (retinal-renal ciliopathy). Retinal degeneration and renal disease are the predominant features.

Inheritance: Autosomal Recessive