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2号染色体开放阅读框39抗体
半岛bd体育手机客户端 介绍
靶标:
DRC1 半岛bd体育手机客户端 别名: C2orf39; CCDC164; CILD21; DRC1; dynein regulatory complex subunit 1; dynein regulatory complex subunit 1; dynein regulatory complex protein 1; coiled-coil domain-containing protein 164; 2号染色体开放阅读框39; 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 C2orf39 gene product has been provisionally designated C2orf39 pending further characterization.
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