Home > Product > Antibody > Rabbit Anti-DGCR14 antibody
DGCR14; DGS H; DGS I; DGSH; DGSI; DiGeorge syndrome critical region gene 14; DiGeorge syndrome critical region gene DGSI; DiGeorge syndrome critical region protein 14; DiGeorge syndrome gene H; DiGeorge syndrome gene I; ES2; DGC14_HUMAN; ES2 pro
Cat:
SL14292R
Species Reactivity:
(predicted: Human,Mouse,Rat,Dog,Rabbit,)
Immunogen:
KLH conjugated synthetic peptide derived from human DGCR14:371-476/476
Format:
Liquid
Storage instructions:
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ELISA=1:5000-10000not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
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Unit:
Price: $
Product PDFs
Datasheet:


DGCR14 is a 476 amino acid nuclear protein that belongs to the DGCR14 family. DGCR14 is believed to play a part in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and typical facial anomalies. Most cases result from a deletion of chromosome 22q11.2 (DiGeorge syndrome chromosome region, or DGCR). This protein localizes to the nucleus and co-purifies with C complex spliceosomes.

Function:
DiGeorge syndrome critical region 14, DGCR14 has been identified in the spliceosome C complex and may be involved in pre-mRNA splicing. May have a role in velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and facial anomalies. Most cases of this syndrome involve a deletion of chromosome 22q11.2 in the DiGeorge syndrome chromosome region.

Subcellular Location:
Nuclear

Similarity:
Belongs to the DGCR14 family.

SWISS:
Q96DF8

Gene ID:
8220

Database links:

Entrez Gene: 8220 Human

Omim: 601755 Human

SwissProt: Q96DF8 Human

Unigene: 517407 Human

Unigene: 686112 Human



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