SMARCAL1 Antibody

SMARCAL1 is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. Mutations in SMARCAL1 gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency.

For short periods of storage (days) store at 4˚ C. For longer periods of storage, store SMARCAL1 antibody at -20˚ C. As with any antibody avoid repeat freeze-thaw cycles.

SMARCAL1 antibody can be used for detection of SMARCAL1 by ELISA at 1:312500. SMARCAL1 antibody can be used for detection of SMARCAL1 by western blot at 1.25 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.