RECQ Protein-Like 4

Alternative Names

RECQL4
DNA Helicase, RECQ-Like, Type 4
RECQ4

Length

6,562 bases

No. of Exons

No. of isoforms

Protein Name

ATP-dependent DNA helicase Q4

Molecular Mass

133077 Da

Amino Acid Count

1208

Genomic Location

chr8:144,511,284-144,517,845

Gene Map Locus

8q24.3

Description

RECQL4 encodes a member of the RecQ helicase family of proteins; helicase enzymes are responsible for unwinding double stranded DNA. RECQL4 helicase activity relies on ATP hydrolysis, and unwinds DNA for the purpose of replication, base excision repair, double stranded break repair, recombination, as well as telomere maintenance and mitochondrial DNA protection.

Over 40 loss of function homozygous and compound heterozygous RECQL4 mutations are associated with 60% of Rothmund-Thomson Syndrome (RTS) cases

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_004260.3:c.1000G>T	United Arab Emirates	NC_000008.11:g.144516119C>A		Likely Pathogenic	Rothmund-Thomson Syndrome	NG_016430.1:g.6708G>T; NM_004260.3:c.1000G>T ; NP_004251.3:p.Glu334Ter
NM_004260.3:c.3056-2A>C	Lebanon	NC_000008.11:g.144512326T>G	Likely Pathogenic	Likely Pathogenic	Baller-Gerold Syndrome	NG_016430.1:g.10501A>C; NM_004260.3:c.3056-2A>C; NP_004251.3:p.?	786200889	6075
NM_004260.3:c.3314G>A	Lebanon	chr8:144511990	Benign, Likely Benign	Uncertain Significance	Breast Cancer	NG_016430.1:g.10837G>A; NM_004260.3:c.3314G>A; NP_004251.3:p.Gly1105Asp	36078464	135151
NM_004260.4:c.3184C>T	Lebanon	chr8:144512196		Uncertain Significance	Breast Cancer	NG_016430.1:g.10631C>T; NM_004260.4:c.3184C>T; NP_004251.4:p.Arg1062Trp	199658221	135145

Download Table

External Links

http://www.genecards.org/cgi-bin/carddisp.pl?gene=RECQL4 http://www.proteinatlas.org/ENSG00000160957-RECQL4 http://www.uniprot.org/uniprot/O94761 https://ghr.nlm.nih.gov/gene/RECQL4 https://medlineplus.gov/genetics/gene/recql4/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=recql4

Contributors

Sami Bizzari: 13.07.2021
Sami Bizzari: 10.12.2017

Edit History

Sami Bizzari: 13.07.2021
Pratibha Nair: 08.09.2020
Pratibha Nair: 24.12.2018
Pratibha Nair: 18.12.2017

Back to search Result