SLX4 Structure-Specific Endonuclease Subunit

Alternative Names

  • SLX4
  • SLX4, S. Cerevisiae, Homolog of
  • BTB/POZ Domain-Containing Protein 12 BTBD12
  • MUS312, Drosophila, Homolog of
  • MUS312
  • KIAA1784
  • KIAA1987
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OMIM Number

613278

NCBI Gene ID

84464

Uniprot ID

Q8IY92

Length

31,987 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Structure-specific endonuclease subunit SLX4

Molecular Mass

200012 Da

Amino Acid Count

1834

Genomic Location

chr16:3,579,653-3,611,639

Gene Map Locus
16p13.3

Description

This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032444.4:c.1186C>GLebanonchr16:3597977Uncertain SignificanceBreast CancerNG_028123.1:g.18608C>G; NM_032444.4:c.1186C>G; NP_115820.2:p.Leu396Val1596528058803201
NM_032444.4:c.1837C>T Lebanonchr16:3596240Uncertain SignificanceBreast CancerNG_028123.1:g.20345C>T; NM_032444.4:c.1837C>T ; NP_115820.2:p.Gln613Ter
NM_032444.4:c.1919C>A Lebanonchr16:3596158Uncertain SignificanceUncertain SignificanceBreast CancerNG_028123.1:g.20427C>A; NM_032444.4:c.1919C>A ; NP_115820.2:p.Thr640Asn1340467468962446
NM_032444.4:c.3337G>C Lebanonchr16:3590301Uncertain SignificanceUncertain SignificanceBreast CancerNG_028123.1:g.26284G>C; NM_032444.4:c.3337G>C ; NP_115820.2:p.Gly1113Arg7722468201038292
NM_032444.4:c.421G>TLebanonchr16:3608544PathogenicBreast CancerNG_028123.1:g.8041G>T; NM_032444.4:c.421G>T; NP_115820.2:p.Gly141Trp137976282241689
NM_032444.4:c.5501A>G Lebanonchr16:3582346Benign, Likely BenignUncertain SignificanceBreast CancerNG_028123.1:g.34239A>G; NM_032444.4:c.5501A>G ; NP_115820.2:p.Asn1834Ser111738042241697
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