SPRTN
Chr 1ARSprT-like N-terminal domain
Also known as: C1orf124, DVC1, PRO4323, spartan
The protein functions as a DNA-dependent metalloendopeptidase that cleaves toxic DNA-protein cross-links during DNA replication to maintain genomic integrity. Mutations cause Ruijs-Aalfs progeroid syndrome, an autosomal recessive disorder characterized by premature aging features and chromosomal instability. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.30), consistent with its essential role in DNA repair.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPRTN · 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