RecQ helicase
From Wikipedia, the free encyclopedia
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Bloom syndrome
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| Identifiers | |
| Symbol(s) | BLM |
| Entrez | 641 |
| OMIM | 604610 |
| RefSeq | NM_000057 |
| UniProt | P54132 |
| Other data | |
| Locus | Chr. 15 [1] |
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RecQ protein-like 4
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| Identifiers | |
| Symbol(s) | RECQL4 |
| Entrez | 9401 |
| OMIM | 603780 |
| RefSeq | NM_004260 |
| UniProt | O94761 |
| Other data | |
| Locus | Chr. 8 q24.3 |
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Werner syndrome
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| Identifiers | |
| Symbol(s) | WRN |
| Entrez | 7486 |
| OMIM | 604611 |
| RefSeq | NM_000553 |
| UniProt | Q14191 |
| Other data | |
| Locus | Chr. 8 p |
RecQ helicase is a family of helicase enzymes which unwind DNA for replication, transcription and repair. Mutations in the genes responsible for them are believed to be responsible for several disorders:
- Bloom syndrome: BLM gene
- Rothmund-Thompson's syndrome: RECQ4 gene
- Werner syndrome: WRN gene
[edit] External links
- RecQ Helicases, introduction at UNC's Selsky Lab.
- BLM gene encodes a RecQ Helicase, descripton of the gene
