Specificity
SmarcAL1 (SWI/SNF-related matrix-associated Actin-dependent regulator of chromatin subfamily A-like protein 1), also known as HARP (hepA-related protein) or HHARP, is a 954 amino acid member of the SWI/SNF family of helicase and ATPase proteins. Localized to the nucleus, SmarcAL1 is a ubiquitously expressed protein that functions in ATP-dependent nucleosomeremodeling activities. SmarcAL1 contains one conserved C-terminal SNF2 domain, one helicase ATP-binding domain and two HARP domains. Defects in the gene encoding SmarcAL1 are the cause of Schimke immuno-osseous dysplasia (SIOD), an autosomal recessive disorder characterized by renal dysfunction, spondyloepiphyseal dysplasia and T cell immunodeficiency.
