SDCCAG8
Chr 1ARSHH signaling and ciliogenesis regulator SDCCAG8
Also known as: BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP
This gene encodes a centrosome-associated protein that is essential for ciliogenesis and plays a critical role in establishing cell polarity and epithelial lumen formation. Mutations cause autosomal recessive ciliopathies including Bardet-Biedl syndrome 16 and Senior-Loken syndrome 7, which affect multiple organ systems including the retina, kidneys, and other ciliated tissues. The gene is extremely intolerant to loss-of-function variants (pLI ~0), indicating that complete loss of protein function is likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SDCCAG8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools