2017-5-4
英文名称 Anti-C9orf173
中文名称 9号染色体开放阅读框173抗体
别 名 C9orf173; Chromosome 9 open reading frame 173; CI173_HUMAN; Uncharacterized protein C9orf173.
详细介绍:
相关资料:
产品介绍 C9orf173 (chromosome 9 open reading frame 173) is a 389 amino acid protein that exists as four alternatively spliced isoforms. The gene encoding C9orf173 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.
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