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RECQL4RecQ protein-like 4 |
Known also as: RECQ4;
| NCBI Gene ID: | 9401 |
| NCBI Ensembl Id: | ENSG00000160957 |
| MIM Id: (from NCBI OMIM database) | 603780 |
| Species: | Homo sapiens |
| The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
- BALLER-GEROLD SYNDROME; BGS (218600 )
- ROTHMUND-THOMSON SYNDROME; RTS (#268400)
- BALLER-GEROLD SYNDROME; BGS (218600 )
- ROTHMUND-THOMSON SYNDROME; RTS (#268400)
| Authors | Title | Journal |
| Xu X, Liu Y | Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4. | EMBO J March 4, 2009 |
Last modification of this entry: Oct. 6, 2010.
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