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PPP2R1A基因突变因子与药物介绍

2022.8.02

该基因编码蛋白质磷酸酶2的恒定调节亚单位。蛋白磷酸酶2是四种主要的ser/thr磷酸酶之一,与细胞生长和分裂的负调控有关。它由一种常见的异聚核心酶组成,由一个催化亚基和一个恒定的调节亚基组成,与多种调节亚基相结合。恒定调节亚基a充当支架分子,以协调催化亚基和可变调节b亚基的组装。该基因编码恒定调节亚单位a的α亚型。已描述了选择性剪接的转录变体。[由RefSeq提供,2010年4月]
This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

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