卷曲螺旋结构域蛋白148抗体-抗体-抗体-生物在线
北京索莱宝科技有限公司
卷曲螺旋结构域蛋白148抗体

卷曲螺旋结构域蛋白148抗体

商家询价

产品名称: 卷曲螺旋结构域蛋白148抗体

英文名称: CCDC148

产品编号: bs-8119R

产品价格: null

产品产地: 北京

品牌商标: BIOSS

更新时间: 2024-12-25T14:11:45

使用范围: WB=1:100-500,ELISA=1:500-1000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,

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CCDC148 (coiled-coil domain containing 148), also known as MGC125590 or MGC125588, is a 591 amino acid protein encoded by a gene mapping to human chromosome 2. 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.