Radical S-adenosylmethionine (SAM) enzymes catalyze an astonishing array of complex and chemically challenging reactions across all domains of life. Of approximately 114,000 of these enzymes, 8 are known to be present in humans: MOCS1, molybdenum cofactor biosynthesis; LIAS, lipoic acid biosynthesis; CDK5RAP1, 2-methylthio-N(6)-isopentenyladenosine biosynthesis; CDKAL1, methylthio-N(6)-threonylcarbamoyladenosine biosynthesis; TYW1, wybutosine biosynthesis; ELP3, 5-methoxycarbonylmethyl uridine; and RSAD1 and viperin, both of unknown function. Aberrations in the genes encoding these proteins result in a variety of diseases. In this review, we summarize the biochemical characterization of these 8 radical S-adenosylmethionine enzymes and, in the context of human health, describe the deleterious effects that result from such genetic mutations.

中文翻译：

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人类健康和疾病中的自由基 S-腺苷甲硫氨酸酶。

自由基 S-腺苷甲硫氨酸 (SAM) 酶在生命的所有领域催化一系列令人惊讶的复杂且具有化学挑战性的反应。在大约 114,000 种酶中，已知有 8 种存在于人体中：MOCS1，钼辅因子生物合成；LIAS，硫辛酸生物合成；CDK5RAP1，2-甲硫基-N(6)-异戊烯基腺苷生物合成；CDKAL1，甲硫基-N(6)-苏氨酰氨基甲酰腺苷生物合成；TYW1, wybutosine 生物合成；ELP3，5-甲氧羰基甲基尿苷；和 RSAD1 和 viperin，均未知功能。编码这些蛋白质的基因的异常会导致多种疾病。在这篇综述中，我们总结了这 8 种自由基 S-腺苷甲硫氨酸酶的生化特征，并在人类健康的背景下，描述了此类基因突变导致的有害影响。