蛋白质/抗原/多肽 >> 重组蛋白
重组猫眼综合征染色体候选基因6蛋白
半岛bd体育手机客户端 介绍
基因名:
TMEM121B 半岛bd体育手机客户端 别名: CECR6; TMEM121B; transmembrane protein 121B; transmembrane protein 121B; transmembrane protein 121B; cat eye syndrome chromosome region, candidate 6; cat eye syndrome critical region protein 6; 猫眼综合征染色体候选基因6; 背景信息:
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.
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