SLX4
Chr 16ARSLX4 structure-specific endonuclease subunit
Also known as: BTBD12, FANCP, MUS312
This protein functions as a regulatory subunit that assembles and activates multiple structure-specific endonucleases essential for DNA repair, resolving complex DNA structures that arise during replication and recombination. Mutations cause Fanconi anemia complementation group P, inherited in an autosomal recessive pattern. The gene shows no constraint against loss-of-function variants (very low pLI), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Refuted — evidence has disproved this relationship
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLX4 · 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
Comprehensive Analysis of Predictors of the Treatment With Pembrolizumab and Olaparib in Patients With Unresectable or Metastatic HER2 Negative Breast Cancer and a Deleterious Germline Mutation or a Homologous Recombination Deficiency (COMPRENDO
ACTIVE NOT RECRUITINGStudy of SBRT/Olaparib Followed by Pembrolizumab/Olaparib in Gastric Cancers
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools