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Protein involved in DNA repair

SLX4

SLX4
All data from the card 18
Aliases
SLX4, BTBD12, FANCP, MUS312, SLX4 structure-specific endonuclease subunit
External IDs
OMIM: 613278; MGI: 106299; GeneCards: SLX4
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 16 (human)
Band
16p13.3
End
3,611,606 bp
Chr.
Chromosome 16 (mouse)
Band
16 A1|16 2.34 cM
End
4,003,770 bp
BioGPS
n/a
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
84464
Ensembl
ENSG00000188827
UniProt
Q8IY92
RefSeq (mRNA)
NM_032444
RefSeq (protein)
NP_115820
Location (UCSC)
Chr 16: 3.58 – 3.61 Mb

SLX4 (also known as BTBD12 and FANCP) is a protein involved in DNA repair, where it has important roles in the final steps of homologous recombination. Mutations in the gene are associated with the disease Fanconi anemia.

The version of SLX4 present in humans and other mammals acts as a sort of scaffold upon which other proteins form several different multiprotein complexes. The SLX1-SLX4 complex acts as a Holliday junction resolvase. 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 is also recruited to telomeres through interaction with the shelterin protein TRF2, where it helps prevent telomeric DNA damage and contributes to telomere homeostasis. The SLX4 interacting protein interacts with SLX4 in the DNA repair process, specifically in interstrand crosslink repair. SLX4 also associates with RAD1, RAD10 and SAW1 in the single-strand annealing pathway of homologous recombination. The DNA repair function of SLX4 is involved in sensitivity to proton beam radiation.

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Text from Wikipedia, CC BY-SA 4.0 · Source article