SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is aprotein that in humans is encoded by theSMARCAL1gene.[5][6][7]
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family havehelicase andATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The SMARCAL1 protein convertRPA-bound, single stranded DNA into double-stranded DNA, an enzyme activity termed "annealing helicase".[8] This activity is important for two cellular functions: replication fork reversal,[9] andR-loop unwinding.[10]
The encoded protein shows sequence similarity to theE. coliRNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features ofspondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.[7]
^Coleman MA, Eisen JA, Mohrenweiser HW (May 2000). "Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse".Genomics.65 (3):274–82.CiteSeerX10.1.1.186.4879.doi:10.1006/geno.2000.6174.PMID10857751.
Bökenkamp A, deJong M, van Wijk JA, Block D, van Hagen JM, Ludwig M (Dec 2005). "R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia".Pediatric Nephrology.20 (12):1724–8.doi:10.1007/s00467-005-2047-x.PMID16237566.S2CID35371382.
