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PPP1R17基因突变因子与药物介绍

2022.8.02
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zhaoqisun

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这个基因编码的蛋白质主要存在于小脑浦肯野细胞中,在那里它作为蛋白磷酸酶抑制剂发挥作用编码蛋白是cGMP依赖性蛋白激酶的底物该基因的一个等位基因被发现增加了对高胆固醇血症的易感性已经发现了两个编码不同亚型的转录变体。[由RefSeq提供,2010年7月]
The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

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