抗体 >> 其他抗体
2号染色体开放阅读框53抗体
半岛bd体育手机客户端 介绍
靶标:
Prr30 半岛bd体育手机客户端 别名: 1700110M21Rik; Prr30; proline rich 30; proline rich 30; proline-rich protein 30; 2号染色体开放阅读框53; 背景信息:
C2orf53 (chromosome 2 open reading frame 53), also known as MGC44505, is a 412 amino acid protein that is encoded by a gene located on human chromosome 2p23.3. The second largest human chromosome, chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes 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.
宿主:Rbt |
相关半岛bd体育手机客户端
|