BLM

GENE INFORMATION

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Gene name

BLM (HGNC Symbol)

Synonyms

BS, RECQ2, RECQL3

Description

Bloom syndrome, RecQ helicase-like (HGNC Symbol)

Entrez gene 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]

Chromosome

15 (Chromosome progress)

Cytoband

q26.1

Chromosome location (bp)

91260558 - 91358859

Ensembl

ENSG00000197299 (version 73.37)

Entrez gene

641

UniProt

P54132 (UniProt - Evidence at protein level)

neXtProt

NX_P54132

Antibodypedia

BLM antibodies
 

PROTEIN VIEW

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BLM-001
 
BLM-002
 
BLM-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BLM-001 ENSP00000347232
ENST00000355112
P54132
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Show » Show » 1417 159 No 0
BLM-002 ENSP00000454158
ENST00000560509
H0YNU5
Show all »
Show » Show » 1286 144.5 No 0
BLM-003 ENSP00000453359
ENST00000559724
H0YLV8
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Show » 413 46.1 No 0