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重组分泌型磷蛋白2(SPP2)
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介绍 基因名: SPP2 半岛bd体育手机客户端 别名: SPP-24; SPP24; SPP2; secreted phosphoprotein 2; secreted phosphoprotein 2; secreted phosphoprotein 24; secreted phosphoprotein 2, 24kD; secreted phosphoprotein 2, 24kDa; 分泌型磷蛋白2(SPP2); 分泌性磷蛋白24; 背景信息: SPP24, also known as secreted phosphoprotein 2, is a 211 amino acid secreted protein that belongs to the cystatin superfamily. Expressed in liver and plasma, SPP24 may play a role in coordinating an aspect of bone turnover. The gene that encodes SPP24 maps to human chromosome 2, which consists of 237 million bases encoding over 1,400 genes, 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鰉 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. 标签:His-tag |
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