產(chǎn)品編號(hào) | bs-42378P |
英文名稱 | Recombinant human ADA2 protein, N-GST |
中文名稱 | 重組人貓眼綜合征染色體候選基因1蛋白 |
別 名 | ADA2_HUMAN; Adenosine deaminase 2; Cat eye syndrome critical region protein 1; ADGF; CECR1; IDGFL; |
理論分子量 | 48.5kDa |
性 狀 | Liquid |
濃 度 | >1mg/ml |
純 度 | >90% as determined by SDS-PAGE |
緩 沖 液 | 20mM Tris-Hcl (pH=8.0) with 8M Urea |
保存條件 | Stored at -70℃ or -20℃. 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. |
產(chǎn)品介紹 |
CECR1 is a member of the adenosine and AMP deaminases family. It may act as a growth factor and have adenosine deaminase activity. It is a candidate gene for cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.
Adenosine deaminase is an enzyme that is present in most tissues and exists predominantly as a monomer, although in some tissues it is associated with adenosine deaminase-binding protein. Adenosine deaminase degrades extracellular adenosine, which is toxic for lymphocytes. A novel family of growth factors that share sequence similarity to adenosine deaminase has been identified. The cat eye syndrome critical region protein (CECR) family includes CECR1, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8 and CECR9. The genes encoding CECR proteins are candidates for Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. CES is characterized by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. CECR family members are widely expressed. Specifically, CECR1 has the highest expression in adult heart, lung, lymphoblasts and placenta. CECR2 is also involved in neurulation and chromatin remodeling. Mutations in the CECR2 gene result in neural tube defects. SWISS: Q9NZK5 Gene ID: 51816 |
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