SMARCAL1 (D3P5I) Rabbit mAb #44717

SMARCAL1 was first identified as a ubiquitously expressed member of the SNF2 family with homology to the E. coli protein HepA (1). Mutations in the gene encoding SMARCAL1 were subsequently shown to be the cause of Schimke immuno-osseous dysplasia (SIOD), an autosomal recessive disorder characterized by phenotypes in multiple systems, including spondyloepiphyseal dysplasia, renal dysfunction, immunodeficiency, and impaired neurological function (2). Researchers have also associated SMARCAL1 deficiency with predisposition to non-Hodgkin's lymphoma (3). The array of phenotypes associated with SMARCAL1 is likely due to its role as an annealing helicase in the DNA damage response. During DNA replication stress, SMARCAL1 is phosphorylated by DNA repair kinases (ATM, ATR, DNA-PK) (4). SMARCAL1 deficiency sensitizes cells to replication stress agents, and appears to increase the frequency of replication fork breakdown (4,5). SMARCAL1 is also required for efficient DNA double strand break repair via the nonhomologous end joining (NHEJ) DNA repair pathway (6). Researchers have suggested that inhibitors targeting SMARCAL1 may be effective in sensitizing cancer cells to chemotherapeutic agents (reviewed in 7).