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Merck
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Key Documents

WH0006598M1

Sigma-Aldrich

Monoclonal Anti-SMARCB1 antibody produced in mouse

clone 3E10, purified immunoglobulin, buffered aqueous solution

Sinónimos:

Anti-BAF47, Anti-INI1, Anti-RDT, Anti-SNF5, Anti-SNF5L1, Anti-SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, Anti-Sfh1p, Anti-Snr1, Anti-hSNFS

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About This Item

MDL number:
MFCD04118401
UNSPSC Code:
12352203
NACRES:
NA.41

biological source

mouse

conjugate

unconjugated

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

3E10, monoclonal

form

buffered aqueous solution

species reactivity

mouse

technique(s)

immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
indirect ELISA: suitable
western blot: 1-5 μg/mL

isotype

IgG1κ

GenBank accession no.

NM_003073

UniProt accession no.

Q9Z0H3

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... SMARCB1(6598)

General description

SMARCB1, switch/sucrose nonfermenting (SWI/SNF) related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 is a core subunit of the SWI/SNF complex. It is a nuclear protein showing ubiquitous expression. SMARCB1 gene is mapped to human chromosome 22q11.23.

Immunogen

SMARCB1 (NP_003064, 81 a.a. ~ 180 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
YTTLATSVTLLKASEVEEILDGNDEKYKAVSISTEPPTYLREQKAKRNSQWVPTLPNSSHHLDAVPCSTTINRNRMGRDKKRTFPLCFDDHDPAVIHENA

Biochem/physiol Actions

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1) participates in cell cycle progression and epigenetic regulation. It blocks cyclin-dependent kinase (CDK4/6) and cyclin D1 and participates in regulating the wingless (Wnt)/β-catenin signaling pathway. Mutations in the SMARCB1 gene is implicated with severe neurodevelopmental deficits, central nervous system (CNS) structural abnormalities, and seizures. It is associated with the pathophysiology of rare congenital malformation namely, Coffin-Siris syndrome (CSS). Loss of the SMARCB1 gene is linked to the malignant rhabdoid tumor (MRT), a rare childhood cancer. Moreover, MARCB1 gene abnormalities are correlated to gastrointestinal (GI) and sino-nasal carcinoma epithelioid sarcoma (ES), and renal medullary carcinoma (RMC).

Physical form

Solution in phosphate buffered saline, pH 7.4

Legal Information

GenBank is a registered trademark of United States Department of Health and Human Services

Disclaimer

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Storage Class

10 - Combustible liquids

flash_point_f

Not applicable

flash_point_c

Not applicable

ppe

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)

Certificados de análisis (COA)

Busque Certificados de análisis (COA) introduciendo el número de lote del producto. Los números de lote se encuentran en la etiqueta del producto después de las palabras «Lot» o «Batch»

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Shih-Chiang Huang et al.
Genes, chromosomes & cancer, 55(10), 767-776 (2016-05-25)
SMARCB1 inactivation occurs in a variety of tumors, being caused by various genetic mechanisms. Since SMARCB1 and EWSR1 genes are located close to each other on chromosome 22, larger SMARCB1 deletions may encompass the EWSR1 locus. Herein, we report four
Tomoki Kosho et al.
American journal of medical genetics. Part C, Seminars in medical genetics, 166C(3), 262-275 (2014-08-30)
Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: SMARCB1 (12%), SMARCA4 (11%), SMARCE1
Sangeetha N Kalimuthu et al.
Journal of clinical pathology, 69(6), 484-489 (2016-03-05)
SMARCB1 is the core subunit of the SWI/sucrose non-fermenting ATP-dependent chromatin remodelling complex located on the long arm of chromosome 22 (22q11.2). Since discovering genetic alterations of the SMARCB1 gene in malignant rhabdoid tumours, the family of tumours harbouring loss

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