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.1) Clewing, J.M., (2007) Hum. Mutat. 28 (3), 273-283.
Immunogen
Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human SMARCAL1.
Key Feature
Clonality
Polyclonal
Host Species
Rabbit
Tested Applications
ELISAWB
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 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
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 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
Additional Information
Form
Liquid
Storage Instructions
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.
Storage Buffer
IgG in phosphate buffered saline , pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.Store at -20 °C.Stable for 12 months from date of receipt