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RecQ Protein Like Protein 4 (RECQL4)

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RTS; RECQ4; ATP-Dependent DNA Helicase Q4; DNA helicase, RecQ-like type 4

RecQ Protein Like Protein 4 (RECQL4)
CCC M124
HGNC 9949
MGI 1931028
PubMed 18716613
RGD 1307732
UniProt O94761
Wiki RECQL4
Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying deleterious mutations in both copies of the RECQL4 gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone).
RECQL4 gets it name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant RecQ Protein Like Protein 4 (RECQL4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to RecQ Protein Like Protein 4 (RECQL4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to RecQ Protein Like Protein 4 (RECQL4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for RecQ Protein Like Protein 4 (RECQL4) CLIA Kit Customized Service Offer
n/a ELISA Kit for RecQ Protein Like Protein 4 (RECQL4) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant RecQ Protein Like Protein 4 (RECQL4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to RecQ Protein Like Protein 4 (RECQL4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to RecQ Protein Like Protein 4 (RECQL4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for RecQ Protein Like Protein 4 (RECQL4) CLIA Kit Customized Service Offer
n/a ELISA Kit for RecQ Protein Like Protein 4 (RECQL4) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant RecQ Protein Like Protein 4 (RECQL4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to RecQ Protein Like Protein 4 (RECQL4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to RecQ Protein Like Protein 4 (RECQL4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for RecQ Protein Like Protein 4 (RECQL4) CLIA Kit Customized Service Offer
n/a ELISA Kit for RecQ Protein Like Protein 4 (RECQL4) ELISA Kit Customized Service Offer
  1. "Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes."Genomics 54:443-452(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products."Genomics 61:268-276(1999) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Differential regulation of human RecQ family helicases in cell transformation and cell cycle."Oncogene 19:4764-4772(2000) [PubMed] [Europe PMC] [Abstract]
  5. "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases."Hum. Mol. Genet. 12:2837-2844(2003) [PubMed] [Europe PMC] [Abstract]
  6. "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway."Hum. Mol. Genet. 13:2421-2430(2004) [PubMed] [Europe PMC] [Abstract]
  7. "MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication."EMBO J. 28:3005-3014(2009) [PubMed] [Europe PMC] [Abstract]
  8. "Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite."J. Hum. Genet. 48:107-109(2003) [PubMed] [Europe PMC] [Abstract]
  9. "Mutation analysis of the RECQL4 gene in sporadic osteosarcomas."Int. J. Cancer 111:367-372(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene."J. Med. Genet. 43:148-152(2006) [PubMed] [Europe PMC] [Abstract]