
2号染色体开放阅读框56抗体
产品名称: 2号染色体开放阅读框56抗体
英文名称: C2orf56
产品编号: bs-15154R
产品价格: null
产品产地: 北京
品牌商标: BIOSS
更新时间: 2025-05-07T13:47:23
使用范围: WB=1:100-500,ELISA=1:500-1000,IHC-P=1:100-500,IHC-F=1:100-500,ICC=1:100-500,IF=1:100-500,
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C12orf56 (chromosome 12 open reading frame 56), also known as PRO1853 or protein midA homolog, is a 441 amino acid mitochondrial protein that belongs to the midA family. Existing as two alternatively spliced isoforms, C12orf56 is encoded by a gene that maps to human chromosome 2p22.2. 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 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.