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Key Documents

WH0006598M1

Sigma-Aldrich

Monoclonal Anti-SMARCB1 antibody produced in mouse

clone 3E10, purified immunoglobulin, buffered aqueous solution

Synonyme(s) :

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

Numéro MDL:
MFCD04118401
Code UNSPSC :
12352203
Nomenclature NACRES :
NA.41

Source biologique

mouse

Conjugué

unconjugated

Forme d'anticorps

purified immunoglobulin

Type de produit anticorps

primary antibodies

Clone

3E10, monoclonal

Forme

buffered aqueous solution

Espèces réactives

mouse

Technique(s)

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

Isotype

IgG1κ

Numéro d'accès GenBank

NM_003073

Numéro d'accès UniProt

Q9Z0H3

Conditions d'expédition

dry ice

Température de stockage

−20°C

Modification post-traductionnelle de la cible

unmodified

Informations sur le gène

human ... SMARCB1(6598)

Description générale

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.

Immunogène

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

Actions biochimiques/physiologiques

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).

Forme physique

Solution in phosphate buffered saline, pH 7.4

Informations légales

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

Clause de non-responsabilité

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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Code de la classe de stockage

10 - Combustible liquids

Point d'éclair (°F)

Not applicable

Point d'éclair (°C)

Not applicable

Équipement de protection individuelle

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

Certificats d'analyse (COA)

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Consulter la Bibliothèque de documents

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
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
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

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