RECQL4

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RecQ protein-like 4
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RECQL4 ; RECQ4
External IDs OMIM603780 MGI1931028 HomoloGene3144 GeneCards: RECQL4 Gene
EC number 3.6.4.12
RNA expression pattern
PBB GE RECQL4 213520 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9401 79456
Ensembl ENSG00000256088 ENSMUSG00000033762
UniProt O94761 Q75NR7
RefSeq (mRNA) NM_004260 NM_058214
RefSeq (protein) NP_004251 NP_478121
Location (UCSC) Chr 8:
145.74 – 145.74 Mb
Chr 15:
76.7 – 76.71 Mb
PubMed search [1] [2]

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.[1][2][3]

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).[4] 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.[5]

External links[edit]

References[edit]

  1. ^ Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A (Feb 1999). "Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes". Genomics 54 (3): 443–52. doi:10.1006/geno.1998.5595. PMID 9878247. 
  2. ^ Sangrithi MN, Bernal JA, Madine M, Philpott A, Lee J, Dunphy WG, Venkitaraman AR (Jun 2005). "Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome". Cell 121 (6): 887–98. doi:10.1016/j.cell.2005.05.015. PMID 15960976. 
  3. ^ "Entrez Gene: RECQL4 RecQ protein-like 4". 
  4. ^ Wang LL, Gannavarapu A, Kozinetz CA, et al. (2003). "Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.". J. Natl. Cancer Inst. 95 (9): 669–74. doi:10.1093/jnci/95.9.669. PMID 12734318. 
  5. ^ Kitao S, Lindor NM, Shiratori M, et al. (2000). "Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products.". Genomics 61 (3): 268–76. doi:10.1006/geno.1999.5959. PMID 10552928. 

Further reading[edit]