Rabbit anti-Human Bloom Syndrome Polyclonal Antibody | anti-BLM antibody

Bloom Syndrome (BLM, BS, RECQ2, RECQL2)

Cat. Num. AAA617072

• Gene Names: BLM; BS; RECQ2; RECQL2; RECQL3; MGC126616; MGC131618; MGC131620
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by peptide affinity chromatography.
• Synonyms: Bloom Syndrome; Polyclonal Antibody; Bloom Syndrome (BLM; BS; RECQ2; RECQL2); Anti -Bloom Syndrome (BLM; anti-BLM antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Detects endogenous levels of total BLM protein.
• Purity/Purification: Purified by peptide affinity chromatography.
• Form/Format: Supplied as a liquid in 10mM sodium HEPES, pH 7.5, 150mM sodium chloride, 100ug/ml BSA, 50% glycerol.

• Applicable Applications for anti-BLM antibody: Western Blot (WB)
• Application Notes: Suitable for use in Western Blot.; Dilution: Western Blot: 1:1000
• Immunogen: Synthetic peptide (KLH-coupled) corresponding to residues near the amino terminus of human BLM.
• Preparation and Storage: For long-term storage, aliquot and store at -20 degree C. Aliquots are stable for at least 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

Western Blot (WB)

(Western blot analysis of extracts from HeLa and Jurkat cells using MBS617072 BLM.)

Related Product Information for anti-BLM antibody

BLM, a member of the RecQ family of DNA helicases, is part of the BRCA1-associated genome surveillance complex (BASC) that responds to DNA damage, stalled replication forks and S phase arrest (1-4). Phosphorylation of BLM helicase at Thr99 and Thr122 occurs in response to genotoxic stress (4), and phosphorylation of Ser144 appears to be important in regulating chromosome stability during mitosis (5). Typical BLM protein resides in the nucleus and forms part of a dynamic protein complex that acts in response to DNA damage during specific periods of the cell cycle (6). Although RecQ helicases are rarely considered as essential enzymes, they function at the interface between DNA recombination and repair and are required for global genome stability maintenance. Mutations in BLM helicase are responsible for development of Bloom Syndrome, a recessive genetic disorder clinically characterized by short stature, immunodeficiency and elevated risk of malignancy (7). Similar alterations to genes encoding the related RecQ helicases RecQ4 and WRN also result in recessive genetic disorders associated with genomic instability (8,9). Cells from Bloom Syndrome patients exhibit genomic instability and increased frequency of sister chromatid exchange (10).

Mutations of the gene for BLM have previously been associated with Bloom's syndrome, a disorder characterized by growth deficiency, chromosomal instability, and a predisposition to various cancers. Studies have implicated the BLM protein, an enzyme with potential roles in DNA replication, recombination, and chromosome segregation.
Bloom syndrome is a rare autosomal recessive disorder characterized by telangiectases and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. The New York dermatologist David Bloom first described the syndrome in 1954. The syndrome is caused by a mutation in the gene designated BLM, traced to band 15q26.1. The protein encoded by the normal gene has DNA helicase activity and functions in the maintenance of genomic stability. Increased sister chromatid exchanges and chromosomal instability also occur, which is assumed to be responsible for the phenotype and the cancer predisposition. In 1989, Nicotera et al suggested that the major biochemical defect in persons with Bloom syndrome is chronic overproduction of the superoxide radical anion. They thought that inefficient removal of peroxide might be responsible for the high rates of sister chromatid exchange and chromosomal damage in Bloom syndrome cells. More than 170 case reports have been made. The frequency of parental consanguinity is much greater than in the general population.

Product Categories/Family for anti-BLM antibody

Antibodies; Abs to Disease Markers

NCBI and Uniprot Product Information

• NCBI GI #: 4557365
• NCBI GeneID: 641
• NCBI Accession #: NP_000048.1
• NCBI GenBank Nucleotide #: NM_000057.2
• UniProt Accession #: P54132; Q52M96; Q3B7X0
• Molecular Weight: 159,000 Da
• NCBI Official Full Name: Bloom syndrome protein
• NCBI Official Synonym Full Names: Bloom syndrome, RecQ helicase-like
• NCBI Official Symbol: BLM
• NCBI Official Synonym Symbols: BS; RECQ2; RECQL2; RECQL3; MGC126616; MGC131618; MGC131620
• NCBI Protein Information: Bloom syndrome protein; OTTHUMP00000194750; recQ protein-like 3; DNA helicase, RecQ-like type 2
• UniProt Protein Name: Bloom syndrome protein
• Protein Family: Bloom syndrome protein
• UniProt Gene Name: BLM
• UniProt Synonym Gene Names: RECQ2; RECQL3
• UniProt Entry Name: BLM_HUMAN

NCBI Description

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]

Uniprot Description

BLM: a magnesium-dependent ATP-dependent DNA-helicase that unwinds single- and double-stranded DNA in a 3'-5' direction. A member of the RecQ helicase family that is required for genome stability. Participates in DNA replication, recombination and repair. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex which is a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2.

Protein type: DNA repair, damage; DNA replication; Helicase; EC 3.6.4.12

Chromosomal Location of Human Ortholog: 15q26.1

Cellular Component: male germ cell nucleus; lateral element; nuclear chromosome; chromosome, telomeric region; PML body; nuclear matrix; pronucleus; cytoplasm; nucleolus; replication fork; nucleus

Molecular Function: four-way junction helicase activity; ATP-dependent DNA helicase activity; G-quadruplex DNA binding; protein binding; ATP-dependent 3'-5' DNA helicase activity; p53 binding; ATPase activity; ATP-dependent helicase activity; bubble DNA binding; helicase activity; ATP binding; single-stranded DNA binding

Biological Process: negative regulation of DNA recombination; regulation of binding; positive regulation of transcription, DNA-dependent; negative regulation of mitotic recombination; DNA double-strand break processing; alpha-beta T cell differentiation; negative regulation of cell division; DNA repair; double-strand break repair via homologous recombination; DNA duplex unwinding; protein oligomerization; DNA recombination; replication fork processing; mitotic cell cycle G2/M transition DNA damage checkpoint; DNA strand renaturation; positive regulation of alpha-beta T cell proliferation; replication fork protection; regulation of cyclin-dependent protein kinase activity; telomere maintenance; response to DNA damage stimulus; response to X-ray

Disease: Bloom Syndrome