抗体 >> 其他抗体
2号染色体开放阅读框27抗体
产品介绍 靶标: C2orf27A 产品别名: C2orf27; C2orf27B; C2orf27A; chromosome 2 open reading frame 27A; chromosome 2 open reading frame 27A; uncharacterized protein C2orf27; uncharacterized protein C2orf27A; 2号染色体开放阅读框27; 背景信息: The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The C2orf27 gene product has been provisionally designated C2orf27 pending further characterization. 宿主:Rbt |
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