SDCCAG8 — Serologically Defined Colon Cancer Antigen 8

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

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