SMARCA5 Recombinant Rabbit mAb (S-4446-48)

SMARCA5, also known as SNF2H or hISWI, is a highly conserved chromatin remodeling ATPase encoded by the SMARCA5 gene, belonging to the ISWI subfamily of the SWI/SNF family. This protein is composed of 1052 amino acids and is localized in the nucleus. Its core function is to utilize the energy derived from ATP hydrolysis to slide nucleosomes, thereby altering chromatin structure and regulating various critical processes including gene transcription, DNA replication, and repair. As the catalytic subunit of multiple important chromatin remodeling complexes (such as ACF, CHRAC, RSF, WICH, and NoRC), it participates in fine-tuned regulatory processes including rDNA transcriptional repression, heterochromatin maintenance, and DNA damage repair through association with different regulatory subunits. At both physiological and pathological levels, SMARCA5 is functionally critical: in cerebellar development, it is essential for the proliferation of granule neuron precursors, and its deficiency leads to cerebellar hypoplasia and suppresses the growth of Sonic Hedgehog-type medulloblastoma; in the immune system, it is indispensable for B-cell activation, germinal center formation, and antibody class switching. Furthermore, heterozygous mutations in this gene are associated with an autosomal dominant complex neurodevelopmental disorder, with patients typically presenting with developmental delay, intellectual disability, and microcephaly.