SMARCA5

SMARCA5, also known as SNF2H, is a protein-coding gene in humans. It encodes a member of the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily A (SMARCA) protein family. These proteins possess helicase and ATPase activities and are thought to regulate transcription by altering the chromatin structure around genes.

Specifically, SMARCA5 is a catalytic subunit of the ISWI (Imitation SWI) chromatin remodeling complex. These complexes are involved in various cellular processes, including DNA replication, DNA repair, and transcriptional regulation. The ISWI complex uses the energy of ATP hydrolysis to reposition nucleosomes, thereby influencing the accessibility of DNA to regulatory factors and affecting gene expression.

SMARCA5 plays a critical role in maintaining genome stability and proper cell function. It has been implicated in processes such as DNA methylation, heterochromatin formation, and the regulation of cell cycle progression.

Variations in the SMARCA5 gene have been associated with a range of developmental disorders and certain types of cancer. Research continues to explore the specific mechanisms by which SMARCA5 and its associated ISWI complex contribute to these conditions. Studies have shown that SMARCA5 is essential for embryonic development and that its dysregulation can lead to developmental defects. Furthermore, altered expression or mutations in SMARCA5 can disrupt normal chromatin remodeling processes, leading to aberrant gene expression patterns that promote tumorigenesis.