The gene SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) is mapped to human chromosome 22q11.23. The protein is localized in the nucleus.
Synonyms: Anti-BAF47; Anti-Ini1; Anti-PPP1R144; Anti-RDT; Anti-SNF5; Anti-SNF5L1; Anti-Sfh1p; Anti-Snr1; Anti-hSNFS
Storage: -20C
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Biochem Physiol Actions: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) is member of chromatin-remodelling SWI/SNF (SWItch/Sucrose Non-Fermentable) multiprotein complex. SMARCB1 directly interacts with other components of the complex including BAF170 (BRG1-associated factor 170), BAF155. Mutations in SMARCB1 are associated with formation of malignant rhabdoid tumors. SMARCB1 germline mutations are associated with familial schwannomatosis. Similarly, SMARCB1 mutations are observed in humans with coffin-siris syndrome. SMARCB1 interacts and stimulates HIV (human immunodeficiency virus)-1 integrase activity, resulting in the integration of retroviral cDNA into host chromosome.
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