|Other Names||Protein DGCR14, DiGeorge syndrome critical region 13, DiGeorge syndrome critical region 14, DiGeorge syndrome protein H, DGS-H, Protein ES2, DGCR14, DGCR13, DGSH, DGSI, ES2|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP13938c was selected from the Center region of DGCR14. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||DGCR13, DGSH, DGSI, ES2|
|Function||May be involved in pre-mRNA splicing.|
|Tissue Location||Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta|
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This gene is located within the minimal DGS criticalregion (MDGCR) thought to contain the gene(s) responsible for agroup of developmental disorders. These disorders include DiGeorgesyndrome, velocardiofacial syndrome, conotruncal anomaly facesyndrome, and some familial or sporadic conotruncal cardiac defectswhich have been associated with microdeletion of 22q11.2. Theencoded protein may be a component of C complex spliceosomes, andthe orthologous protein in the mouse localizes to the nucleus.
Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Olsen, J.V., et al. Cell 127(3):635-648(2006)Olsen, J.V., et al. Cell 127(3):635-648(2006)Wang, H., et al. J Neural Transm 113(10):1551-1561(2006)Jurica, M.S., et al. RNA 8(4):426-439(2002)
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