產(chǎn)品編號(hào) | bs-14292R |
英文名稱 | Rabbit Anti-DGCR14 antibody |
中文名稱 | 狄喬治(DiGeorge)氏綜合征相關(guān)蛋白抗體 |
別 名 | 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 protein; Es2el. |
研究領(lǐng)域 | 心血管 發(fā)育生物學(xué) 表觀遺傳學(xué) |
抗體來源 | Rabbit |
克隆類型 | Polyclonal |
交叉反應(yīng) | (predicted: Human,Mouse,Rat,Rabbit,Dog) |
產(chǎn)品應(yīng)用 | ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
理論分子量 | 53kDa |
細(xì)胞定位 | 細(xì)胞核 |
性 狀 | Liquid |
濃 度 | 1mg/ml |
免 疫 原 | KLH conjugated synthetic peptide derived from human DGCR14: 371-476/476 |
亞 型 | IgG |
純化方法 | affinity purified by Protein A |
緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
PubMed | PubMed |
產(chǎn)品介紹 |
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 |