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BLM Bloom syndrome, RecQ helicase-like [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

Related Services

Gene Symbol BLM
Entrez Gene ID 641
Full Name Bloom syndrome, RecQ helicase-like
Synonyms BS, MGC126616, MGC131618, MGC131620, RECQ2, RECQL2, RECQL3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q26.1

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: 604610

Bloom syndrome, 210900 (3)

mRNA Protein Product Sequence Price Select
NM_000057, 105990533 NP_000048, 4557365 Bloom syndrome protein ORF Sequence $1500.00
KEGG
hsa_M00414Bloom's syndrome complex
hsa03440Homologous recombination
hsa03460Fanconi anemia pathway
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
Pathway Interaction Database
telomerasepathwayRegulation of Telomerase
WikiPathways
WP1971Integrated Cancer pathway
WP1984Integrated Breast Cancer Pathway
WP2377Integrated Pancreatic Cancer Pathway
WP2256Integrated Pancreatic Cancer Pathway
Reactome
REACT_27271Meiotic Recombination
REACT_111183Meiosis
Homo sapiens (human)BLMNP_000048.1
Pan troglodytes (chimpanzee)BLMXP_003314898.1
Macaca mulatta (Rhesus monkey)BLMXP_001097543.1
Canis lupus familiaris (dog)BLMXP_003434427.1
Bos taurus (cattle)BLMXP_002696629.1
Mus musculus (house mouse)BlmNP_001035992.1
Rattus norvegicus (Norway rat)BlmNP_001100996.1
Gallus gallus (chicken)BLMNP_001007088.2
Danio rerio (zebrafish)blmXP_701357.3
Arabidopsis thaliana (thale cress)RECQI1NP_187225.2
GeneCards BLM
PDB 2RRD, 2KV2
UniProt P54132
MIM 604610
Ensembl ENSG00000197299
HGNC 1058
HPRD 05211

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
Bloom syndrome protein
Names
Bloom syndrome protein
recQ protein-like 3
DNA helicase, RecQ-like type 2
NP_000048.1

Interactant



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