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Also known as: ELD; B120; CSS2; OSA1; P270; hELD; BM029; MRD14; hOSA1; BAF250; C1orf4; BAF250a; SMARCF1
This gene encodes a member of the SWI/SNF family that has helicase and ATPase activities and is thought to regulate the transcription of certain genes by altering the chromatin structure surrounding these genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for the transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that may be important for its function. First, it has a DNA-binding domain that specifically binds AT-rich DNA sequences known to be recognized by the SNF/SWI complex at the β-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. The protein encoded by this gene is thought to confer specificity to the SNF/SWI complex and may recruit the complex to its targets through protein-DNA or protein-protein interactions. Two transcript variants of this gene have been found to encode different isoforms.