SMARCA2, also known as BRM (Brahma-related gene on chromosome X), is a subfamily member of the SWI/SNF family of proteins. It plays a crucial role in chromatin remodeling, which involves the adjustment of chromatin structure to facilitate or hinder the access of the transcriptional machinery to DNA. This process is essential for various cellular functions, including gene expression, DNA repair, and replication. As a part of the SWI/SNF complex, SMARCA2 uses the energy from ATP hydrolysis to reposition and evict nucleosomes, thereby altering chromatin structure. This function is vital for transcriptional regulation and maintaining genomic integrity. Mutations or alterations in the expression of SMARCA2 have been implicated in various human diseases, particularly in the context of cancer. It has been found that SMARCA2 mutations can lead to different neurodevelopmental disorders, including Nicolaides-Baraitser syndrome (NCBRS) and Lennox-Gastaut syndrome (LGS). These conditions are often characterized by developmental delays, intellectual disabilities, and epilepsy.
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