Gene Symbol | BLM |
Entrez Gene ID | 641 |
Full Name | Bloom syndrome RecQ like helicase |
Synonyms | BS,RECQ2,RECQL2,RECQL3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Bloom syndrome, 210900 (3) |