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
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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.
| biological source | mouse |
| Quality Segment | 100 |
| 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) |
