SDCCAG8

Chr 1

SHH signaling and ciliogenesis regulator SDCCAG8

Also known as: BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP

NCBI Gene: 10806 ENSG00000054282 UniProt: Q86SQ7

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSenior-Loken syndrome 7

UniProtBardet-Biedl syndrome 16

Clinical highlights

Gene-disease validity (ClinGen)

Bardet-Biedl syndrome 16 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.78

LOEUF

LOF

Mechanism· G2P

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GeneReview available — SDCCAG8