SNF2 related chromatin remodeling annealing helicase 1 (SMARCAL1)

SNF2 related chromatin remodeling annealing helicase 1 (SMARCAL1) encodes an ATP-dependent DNA annealing helicase belonging to the SWI/SNF family, with key roles in chromatin remodeling, DNA repair, and the DNA damage response. It acts primarily at stalled DNA replication forks, promoting fork stability and DNA repair by reannealing single-stranded DNA regions that have become unwound, thus counteracting excessive DNA unwinding by other helicases. SMARCAL1 functions both as a chromatin remodeler and transcriptional co-regulator, thereby influencing gene expression and genome stability. Pathogenic mutations in SMARCAL1 result in Schimke immuno-osseous dysplasia, a rare multisystem disorder characterized by growth failure, renal dysfunction, and T-cell immunodeficiency, underscoring its critical role in human development and immune function.

Other names

SMARCAL1HARPHHARPHepA-related proteinATP-driven annealing helicase