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  • 發布時間:2022-08-15 18:55 原文鏈接: ITPA基因編碼功能及結構描述

    該基因編碼一種肌苷三磷酸焦磷酸水解酶。編碼蛋白水解肌苷三磷酸和脫氧肌苷三磷酸,得到一磷酸核苷酸和二磷酸。這種蛋白質是ham1 ntpase蛋白家族的一員,存在于細胞質中,起著同二聚體的作用。編碼蛋白的缺陷可導致肌苷三磷酸焦磷酸化酶缺乏,從而導致紅細胞中itp的積聚。交替剪接導致多個轉錄變體。[由RefSeq提供,2012年6月]
    This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

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