Symbol: Name: ID: |
BLM Bloom syndrome, RecQ helicase-like GFS:505 |
Gene name: | BLM |
Chromosome: | 15q26.1 |
Previous Symbols: | |
Previous Names: | Bloom syndrome |
Aliases: | BS, RECQL3, RECQ2 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1328362 | Rat Genome Database ID: | RGD:1308810 |
HGNC ID: | HGNC:1058 | RefSeq IDs: | NM_000057 |
Entrez Gene ID: | 641 | Ensembl Gene ID: | ENSG00000197299 |
VEGA IDs: | OTTHUMG00000149834 | UniProt ID: | P54132 |
UCSC ID: | uc002bpr.2 | OMIM ID: | 604610 |
Pubmed: | PMID9388193 | ||
CCDS IDs: | CCDSCCDS10363.1 |
Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is expressed in Bloom syndrome.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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction
Products for BLM gene
Catalog | Product Name | Application | Company |
GFS:E00505 | Bloom syndrome, RecQ helicase-like; ELISA kit | ELISA | n/a |
GFS:A00505 | Bloom syndrome, RecQ helicase-like; Anti | ANTIBODIES | n/a |
GFS:P00505 | Bloom syndrome, RecQ helicase-like; Protien | Protien | n/a |