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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Length

31,987 bases

No. of Exons

No. of isoforms

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

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_032444.4:c.1186C>G	Lebanon	chr16:3597977		Uncertain Significance	Breast Cancer	NG_028123.1:g.18608C>G; NM_032444.4:c.1186C>G; NP_115820.2:p.Leu396Val	1596528058	803201
NM_032444.4:c.1837C>T	Lebanon	chr16:3596240		Uncertain Significance	Breast Cancer	NG_028123.1:g.20345C>T; NM_032444.4:c.1837C>T ; NP_115820.2:p.Gln613Ter
NM_032444.4:c.1919C>A	Lebanon	chr16:3596158	Uncertain Significance	Uncertain Significance	Breast Cancer	NG_028123.1:g.20427C>A; NM_032444.4:c.1919C>A ; NP_115820.2:p.Thr640Asn	1340467468	962446
NM_032444.4:c.3337G>C	Lebanon	chr16:3590301	Uncertain Significance	Uncertain Significance	Breast Cancer	NG_028123.1:g.26284G>C; NM_032444.4:c.3337G>C ; NP_115820.2:p.Gly1113Arg	772246820	1038292
NM_032444.4:c.421G>T	Lebanon	chr16:3608544		Pathogenic	Breast Cancer	NG_028123.1:g.8041G>T; NM_032444.4:c.421G>T; NP_115820.2:p.Gly141Trp	137976282	241689
NM_032444.4:c.5501A>G	Lebanon	chr16:3582346	Benign, Likely Benign	Uncertain Significance	Breast Cancer	NG_028123.1:g.34239A>G; NM_032444.4:c.5501A>G ; NP_115820.2:p.Asn1834Ser	111738042	241697

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLX4 https://www.ncbi.nlm.nih.gov/gene/84464

Contributors

Pratibha Nair: 03.09.2020

Edit History

Pratibha Nair: 03.09.2020