RECQ Protein-Like 4

Alternative Names

  • RECQL4
  • DNA Helicase, RECQ-Like, Type 4
  • RECQ4
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OMIM Number

603780

NCBI Gene ID

9949

Uniprot ID

O94761

Length

6,562 bases

No. of Exons

21

No. of isoforms

1

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004260.3:c.1000G>TUnited Arab EmiratesNC_000008.11:g.144516119C>ALikely PathogenicRothmund-Thomson SyndromeNG_016430.1:g.6708G>T; NM_004260.3:c.1000G>T ; NP_004251.3:p.Glu334Ter
NM_004260.3:c.3056-2A>CLebanonNC_000008.11:g.144512326T>GLikely PathogenicLikely PathogenicBaller-Gerold SyndromeNG_016430.1:g.10501A>C; NM_004260.3:c.3056-2A>C; NP_004251.3:p.?7862008896075
NM_004260.3:c.3314G>ALebanonchr8:144511990Benign, Likely BenignUncertain SignificanceBreast CancerNG_016430.1:g.10837G>A; NM_004260.3:c.3314G>A; NP_004251.3:p.Gly1105Asp36078464135151
NM_004260.4:c.3184C>TLebanonchr8:144512196Uncertain SignificanceBreast CancerNG_016430.1:g.10631C>T; NM_004260.4:c.3184C>T; NP_004251.4:p.Arg1062Trp199658221135145
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