This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene.
Immunogen Information
Immunogen
Recombinant fusion protein of human DGCR14
Gene ID
8220
Swissprot
Q96DF8
Synonyms
DGCR14DGCR13DGS-HDGS-IDGSHDGSIES2ESS-2Es2elbis1
Calculated MW
26kDa/31kDa/32kDa/38kDa/43kDa/46kDa/49kDa
Observed MW
48kDa
Applications
Reactivity
Human,Mouse
Tested Applications
WB
Conjugation
Unconjugated
Dilution
WB 1:500-1:2000
Concentration
1mg/mL
Storage Buffer
PBS with 0.01% thiomersal,50% glycerol,pH7.3.
Storage Instructions
Store at -20°C Valid for 12 months. Avoid freeze / thaw cycles.