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Rabbit Anti-DGCR14/FITC Conjugated antibody
background:
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.
Database links:
Entrez Gene: 8220 Human
Omim: 601755 Human
SwissProt: Q96DF8 Human
Unigene: 517407 Human
Unigene: 686112 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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