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DiGeorge Syndrome Critical Region Gene 14 (DGCR14)

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DGCR13; DGS-H; DGS-I; DGSI; ES2; Es2el

DiGeorge Syndrome Critical Region Gene 14 (DGCR14)
CCC L428
HGNC 16817
MGI 107854
PubMed 20921407
RGD 1308218
UniProt Q96DF8
Wiki DGCR14
DGCR14 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.The proximal and distal boundaries of the smallest region of deletion overlap (SRDO, approximately 300 to 400 kb) had been defined based on breakpoint mapping data from patients with DGS/VCFS.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for DiGeorge Syndrome Critical Region Gene 14 (DGCR14) CLIA Kit Customized Service Offer
n/a ELISA Kit for DiGeorge Syndrome Critical Region Gene 14 (DGCR14) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for DiGeorge Syndrome Critical Region Gene 14 (DGCR14) CLIA Kit Customized Service Offer
n/a ELISA Kit for DiGeorge Syndrome Critical Region Gene 14 (DGCR14) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to DiGeorge Syndrome Critical Region Gene 14 (DGCR14) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for DiGeorge Syndrome Critical Region Gene 14 (DGCR14) CLIA Kit Customized Service Offer
n/a ELISA Kit for DiGeorge Syndrome Critical Region Gene 14 (DGCR14) ELISA Kit Customized Service Offer
  1. "A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart."Genomics 32:104-112(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans."Mamm. Genome 7:639-643(1996) [PubMed] [Europe PMC] [Abstract]
  3. "A genome annotation-driven approach to cloning the human ORFeome."Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11."Hum. Mol. Genet. 5:789-800(1996) [PubMed] [Europe PMC] [Abstract]
  6. "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis."RNA 8:426-439(2002) [PubMed] [Europe PMC] [Abstract]
  7. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  10. "Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region."Hum. Mol. Genet. 6:267-276(1997) [PubMed] [Europe PMC] [Abstract]