PTRH2（Peptidyl-tRNA Hydrolase 2）是一种编码肽酰-tRNA水解酶的基因，属于PTRH基因家族。该家族的主要共性是参与蛋白质合成的质量控制，通过水解错误或停滞的肽酰-tRNA分子来维持翻译过程的准确性。PTRH2的生物学功能包括在核糖体质量控制中发挥作用，清除翻译过程中积累的异常肽酰-tRNA，防止其干扰正常蛋白质合成。PTRH2主要在细胞质中表达，其表达产物是一种水解酶，能够特异性地识别并分解肽酰-tRNA，从而释放tRNA用于新一轮翻译。突变对PTRH2功能的影响可能导致翻译错误积累，引发蛋白质稳态失衡，甚至与某些神经退行性疾病或癌症相关。研究表明，PTRH2的异常表达可能与肿瘤发生发展有关，其过表达可能通过影响翻译质量控制促进细胞异常增殖，而降低表达则可能导致错误蛋白积累，触发细胞应激反应或凋亡。PTRH2还可能与某些遗传性疾病相关，但其具体机制仍需进一步研究。该基因家族成员通常具有保守的水解酶结构域，能够识别相似的底物，但不同成员可能在组织分布或功能调控上存在差异。PTRH2的表达水平变化可能影响其他参与翻译或蛋白质降解的基因，如与未折叠蛋白反应相关的基因，从而对整个蛋白质稳态网络产生广泛影响。

The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]

由该基因编码的蛋白质是线粒体蛋白具有两个推定的结构域，N-末端线粒体定位序列和UPF0099域。体外试验表明，该蛋白质具有肽酰-tRNA水解酶的活性，从tRNA的释放肽部分，从而防止解离的肽酰tRNA的积累能够降低翻译效率。这种蛋白也起着作用调节细胞存活和死亡。它促进存活作为用于附着到细胞外基质（ECM）的细胞的整合素信号通路的一部分，但也促进细胞凋亡的已失去附着到ECM，一个称为anoikos过程的细胞。细胞附着的丧失对ECM后，该蛋白质被磷酸化，从该线粒体进入细胞质释放，并促进通过与转录调节的相互作用胱天蛋白酶非依赖性细胞凋亡。该基因已经牵涉在肿瘤的发展和进展，并且在该基因突变已与婴儿多系统的神经系统，内分泌相关联，并且胰腺疾病（INMEPD）特征在于智障，产后头畸形，进行性小脑萎缩，听力障碍，神经病，未能茁壮成长，和器官纤维化胰腺外分泌功能不全（结论：2557447??6）。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的，2015年3月提供]

PTRH2基因在不同组织中的表达：    [UniProt]

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