DCAF13
Chr 8DDB1 and CUL4 associated factor 13
Also known as: GM83, HSPC064, Sof1, WDSOF1
The DCAF13 protein functions as a substrate adaptor in the Cul4-RING E3 ubiquitin ligase complex and participates in ribosome biogenesis as part of the small subunit processome that processes 18S rRNA. DCAF13 mutations cause autosomal recessive developmental delay with seizures and intellectual disability, affecting neurological development. The gene plays critical roles in early embryonic development, ribosomal RNA processing, and female meiosis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DCAF13 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools