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BLMBloom syndrome, RecQ helicase-like |
Known also as: BS; RECQ2; RECQL2; RECQL3; MGC126616; MGC131618; MGC131620;
| NCBI Gene ID: | 641 |
| NCBI Ensembl Id: | ENSG00000197299 |
| MIM Id: (from NCBI OMIM database) | 604610 |
| Species: | Homo sapiens |
| The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Karow JK, Chakraverty RK, Hickson ID | The Bloom's syndrome gene product is a 3'-5' DNA helicase. | J Biol Chem Dec. 5, 1997 |
| Janscak P, Garcia PL, Hamburger F, Makuta Y, Shiraishi K, Imai Y, Ikeda H, Bickle TA | Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. | J Mol Biol June 27, 2003 |
| Guo RB, Rigolet P, Ren H, Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG | Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. | Nucleic Acids Res Jan. 1, 2007 |
Last modification of this entry: Oct. 6, 2010.
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