RECQL4

RECQL4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KMU
Identifiers
Aliases	RECQL4, RECQ4, RecQ like helicase 4
External IDs	MGI: 1931028 HomoloGene: 3144 GeneCards: RECQL4
Gene ontology Molecular function • annealing helicase activity • nucleotide binding • ATP-dependent 3'-5' DNA helicase activity • bubble DNA binding • protein binding • hydrolase activity • ATP binding • ATP-dependent helicase activity • nucleic acid binding • four-way junction helicase activity • helicase activity • oxidized purine DNA binding • telomeric D-loop binding Cellular component • membrane • cytoplasm • nucleus • chromosome • chromosome, telomeric region Biological process • multicellular organism development • DNA repair • DNA strand renaturation • base-excision repair • double-strand break repair via homologous recombination • DNA recombination • DNA replication • DNA duplex unwinding • telomeric D-loop disassembly • telomere maintenance Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	9401	79456
Ensembl	ENSG00000160957	ENSMUSG00000033762
UniProt	O94761	Q75NR7
RefSeq (mRNA)	NM_004260	NM_058214
RefSeq (protein)	NP_004251	NP_478121.2 NP_478121
Location (UCSC)	Chr 8: 144.51 – 144.52 Mb	Chr 15: 76.7 – 76.71 Mb
PubMed search

2KMU

9401

79456

ENSG00000160957

ENSMUSG00000033762

O94761

Q75NR7

NM_004260

NM_058214

NP_004251

NP_478121.2
NP_478121

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.

Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome, a disorder that has features of premature aging. In addition to the Rothmund-Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller-Gerold syndromes. There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in 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.

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Wikipedia