Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11.
Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities.
VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions.
Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology.
GSC2 is expressed in a limited number of adult tissues, as well as in early human development.
Applications:Suitable for use in Western Blot and ELISA.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000ELISA: 1:20,000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size:30ul
Host:rabbit
Source Antibody:human
Grade:Affinity Purified
Purity:Purified by immunoaffinity chromatography.
Form:Supplied as a liquid in PBS, 0.5% BSA, 0.02% sodium azide, 50% glycerol.
Specificity:Recognizes endogenous levels of human GSC2. Species Crossreactivity: mouse
Isotype:IgG
Calc Applications Abbrev:E WB
Calc Crossreactivity:Hu Mo
Immunogen:Synthetic peptide corresponding to aa100-180 of human GSC2 at C-terminal.