蛋白质/抗原/多肽 >> 重组蛋白
重组2号染色体开放阅读框76蛋白
半岛bd体育手机客户端 介绍
基因名:
C2orf76 半岛bd体育手机客户端 别名: AIM29; C2orf76; chromosome 2 open reading frame 76; chromosome 2 open reading frame 76; UPF0538 protein C2orf76; 2号染色体开放阅读框76; 背景信息:
C2orf76 is a 126 amino acid protein belonging to the UPF0538 family. C2orf76 is encoded by a gene that maps to human chromosome 2q14.2. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare 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鰉 syndrome, is related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.
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