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.
UniProt accession no.
shipped in
dry ice
storage temp.
−20°C
target post-translational modification
unmodified
Quality Level
Gene Information
human ... SMARCB1(6598)
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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
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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存储类别
10 - Combustible liquids
flash_point_f
Not applicable
flash_point_c
Not applicable
ppe
Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)
法规信息
新产品
此项目有
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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