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重组9号染色体开放阅读框37蛋白
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介绍 基因名: ARRDC1-AS1 半岛bd体育手机客户端 别名: C9orf37; ARRDC1-AS1; ARRDC1 antisense RNA 1; ARRDC1 antisense RNA 1; AD038; 9号染色体开放阅读框37; 背景信息: C9orf37 is a 176 amino acid protein encoded by a gene that maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. 标签:His-tag |
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