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Product Name DGCR6 Chinese Name 无胸腺症相关蛋白DGCR6/迪格奥尔格综合征关键基因6抗体 Alias DGCR 6; DGCR6 protein; DiGeorge syndrome critical region 6; DiGeorge syndrome critical region gene 6; DGCR6_HUMAN. Research Area Cell biology Developmental biology Neurobiology Stem cells Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, Cow, Rabbit, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 25kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human DGCR6: 112-180/220 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Neural crest cell migration to the third and fourth pharyngeal pouches is a critical step in the structural formation of organs that are affected in DiGeorge syndrome. DGCR6 (DiGeorge syndrome critical region 6) is a nuclear protein that plays a role in neural crest cell migration and is located at the DiGeorge syndrome critical region (DGCR) on chromosome 22. Expressed ubiquitously with highest levels in heart, liver and skeletal muscle, DGCR6 shares high homology with the Drosophila gonadal (gdl) protein and with human Laminin ?1, both of which are involved in early tissue development. The gene encoding DGCR6, along with other DGCR genes, is deleted in DiGeorge syndrome; a developmental disorder characterized by improper facial, cardiac and palate formation. Upregulation of DGCR6 is implicated in lung and colon adenocarcinomas, as well as in Burkitt抯 lymphoma and lymphocytes transformed by EBV. Due to a duplication of the ancestral DGCR6 locus, there are two functional, highly homologous copies of the DGCR6 gene (designated DGCR6 and DGCR6L) on chromosome 22.
Function:
DGCR6 shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This protein could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome.
Subcellular Location:
Nucleus. Note=Predominantly nuclear.
Tissue Specificity:
Found in all tissues examined with highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain.
Similarity:
Belongs to the gonadal family.
SWISS:
Q14129
Gene ID:
8214
Database links:Entrez Gene: 8214 Human
Omim: 601279 Human
SwissProt: Q14129 Human
Unigene: 474185 Human
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