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8号染色体开放阅读框48抗体
半岛bd体育手机客户端 介绍
靶标:
C8orf48 半岛bd体育手机客户端 别名: C8orf48; chromosome 8 open reading frame 48; chromosome 8 open reading frame 48; uncharacterized protein C8orf48; 8号染色体开放阅读框48; 背景信息:
C8orf48 (chromosome 8 open reading frame 48) is a 319 amino acid protein encoded by a gene that maps to human chromosome 8p22. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
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