Key features and details
- Goat polyclonal to Blooms Syndrome Protein Blm
- Reacts with: Human
- Isotype: IgG
Product nameAnti-Blooms Syndrome Protein Blm antibody
See all Blooms Syndrome Protein Blm primary antibodies
DescriptionGoat polyclonal to Blooms Syndrome Protein Blm
Species reactivityReacts with: Human
Predicted to work with: Chimpanzee
Immunogen was a synthetic peptide, which represented a portion of human Bloom Syndrome encoded within exon 2.
Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
Storage bufferpH: 7
Constituents: 0.021% PBS, 1.764% Sodium citrate, 1.815% Tris
Concentration information loading...
PurityImmunogen affinity purified
FunctionParticipates 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.
Involvement in diseaseDefects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.
Sequence similaritiesBelongs to the helicase family. RecQ subfamily.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase C-terminal domain.
Contains 1 HRDC domain.
modificationsPhosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1.
- Information by UniProt
- Blm antibody
- BLM_HUMAN antibody
- Bloom syndrome antibody
ab5446 has been referenced in 2 publications.
- Mooser C et al. Treacle controls the nucleolar response to rDNA breaks via TOPBP1 recruitment and ATR activation. Nat Commun 11:123 (2020). PubMed: 31913317
- Leimbacher PA et al. MDC1 Interacts with TOPBP1 to Maintain Chromosomal Stability during Mitosis. Mol Cell 74:571-583.e8 (2019). PubMed: 30898438