Alt. symbols: BTBD12 | KIAA1784 | KIAA1987 | FANCP

Approved name: SLX4 structure-specific endonuclease subunit
Alt. names: BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) | Fanconi anemia, complementation group P

Location: 16p13.3: 3581181 - 3611606 (-)
Gene type: protein_coding, 5 transcripts.

Scores: LoFtool: | pLI: 0.00000009 | LOEUF: 0.872

HGNC: 23845

NCBI: 84464, RefSeq: NG_028123.1

Ensembl: ENSG00000188827.12

LRG_503 | Status: public

OMIM: 613278

Expression | ProteinAtlas

SLX4 encodes a protein that functions as a sort of scaffold for multiple structure-specific endonucleases. SLX4 interacts with and increases the activity of three separate endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. The SLX1-SLX4 complex acts as a Holliday junction resolvase by resolving DNA secondary structures generated during DNA repair and recombination. As such, the complex cleaves the links between two homologous chromosomes that form during homologous recombination. This allows the two linked chromosomes to resolve into two unconnected double-strand DNA molecules. SLX4 also 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.

Biallelic mutations in this gene cause a form of Fanconi anemia (FA): FA complementation group P [MIM:613951]. The first families with mutations in this gene were reported in 2011. Six different mutations were reported in these four families: a homozygous frameshift (c.286delA, p.Thr96LeufsX30) in one family, a homozygous splice-site mutation (c.1163+2T>A) in one family, and four heterozygous mutations (p.Gln365SerfsX31 and c.1163+3dupT; p.Leu672ValfsX119 and p.Leu172PhefsX22) in 2 compound hete rozygous families. According to ClinVar almost 20 different mutations - mostly frameshift, but also nonsense or splice-site - have been identified and reported as pathogenic by different laboratories. [Load More]