SMARCA4, EnkiLife, AMRe21379

Cell localization: Nucleus. The protein encoded by this gene is a member ofThe SWI/SNF family of proteins and is similar toThe brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by alteringThe chromatin structure around those genes. The encoded protein is part ofThe large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulateThe expression ofThe tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012],