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重组9号染色体开放阅读框79蛋白
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介绍 基因名: SPATA31E1 半岛bd体育手机客户端 别名: C9orf79; FAM75E1; SPATA31E1; SPATA31 subfamily E member 1; SPATA31 subfamily E member 1; spermatogenesis-associated protein 31E1; FAM75-like protein C9orf79; XXyac-YM21GA2.5; family with sequence similarity 75, member E1; protein FAM75E1; 9号染色体开放阅读框79; 背景信息: C9orf79 is a 1,445 amino acid single-pass membrane protein that belongs to the FAM75 family. The gene encoding C9orf79 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered 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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