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| Description | 1208 aa; 13,3 kDa; belongs to the RecQ subfamily of helicases and contains from aa 476 to 824 an helicase domain with a potential ATP binding site from aa 502 to 509, and the DEAH box from aa 605 to 608 |
| Expression | The RecQ4 gene is predominantly expressed in thymus and testis and at low levels in other organs such as heart, brain, placenta, pancreas, small intestine, and colon, indicating that the expression of RecQ4 gene is somewhat tissue-specific. The overall expression profile resembles that of the BLM gene. Interestingly, the expression of RecQ4 gene is partially upregulated in the G1/S phase of cell cycle. |
| Localisation | nuclear |
| Function | suppresses promiscuous genetic recombination and ensures accurate chromosome segregation. |
| Homology | WRN/RECQ3, BLM/RECQ2 |
| RecQ family helicases: roles in cancer and aging. |
| Karow JK, Wu L, Hickson ID |
| Current opinion in genetics & development. 2000 ; 10 (1) : 32-38. |
| PMID 10679384 |
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| Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. |
| Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A |
| Genomics. 1999 ; 61 (3) : 268-276. |
| PMID 10552928 |
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| Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. |
| Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A |
| Genomics. 1998 ; 54 (3) : 443-452. |
| PMID 9878247 |
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| Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. |
| Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y |
| Nature genetics. 1999 ; 22 (1) : 82-84. |
| PMID 10319867 |
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| Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. |
| Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S |
| American journal of medical genetics. 2000 ; 90 (3) : 223-228. |
| PMID 10678659 |
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| DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. |
| Mohaghegh P, Hickson ID |
| Human molecular genetics. 2001 ; 10 (7) : 741-746. |
| PMID 11257107 |
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