The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500. Detects a band of approximately 105 kDa (predicted molecular weight: 105 kDa).
FunctionATP-dependent annealing helicase that catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA.
Tissue specificityUbiquitously expressed, with high levels in testis.
Involvement in diseaseDefects in SMARCAL1 are a cause of Schimke immuno-osseous dysplasia (SIOD) [MIM:242900]. SIOD causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischema.
Sequence similaritiesBelongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily. Contains 2 HARP domains. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain.