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SLX4

Chr 16p13.3

SLX4 structure-specific endonuclease subunit

Aliases:
KIAA1784, KIAA1987, FANCP
MANE:
ENST00000294008.4

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood solid tumours

    BIALLELIC, autosomal or pseudoautosomal
  • Confirmed Fanconi anaemia or Bloom syndrome

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenias and congenital anaemias

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies for rare disease

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Fanconi anemia

    0.82
  • Fanconi anemia complementation group P

    0.81
  • Bone marrow hypocellularity

    0.50
  • acute myeloid leukemia

    0.50
  • myelodysplastic syndrome

    0.50
  • Fanconi anemia complementation group A

    0.50
  • type 2 diabetes mellitus

    0.35
  • restless legs syndrome

    0.33
  • liver disorder

    0.33
  • diabetes mellitus

    0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Structure-specific endonuclease subunit SLX4

Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.