苹果酸脱氢酶 (MDH) 在新陈代谢中发挥着关键作用，但人们对其在人类健康和疾病中的具体功能知之甚少。在这篇小综述中，我们描述了我们对人类 MDH 遗传学知识的不完整状态。人类拥有 3 个 MDH 基因，总共有 4 个经过验证的亚型。 MDH1和MDH2广泛表达，而MDH1B仅在一小部分组织中表达。已在患者中发现了许多 MDH1 和 MDH2 突变，但只有少数突变被研究以确定它们会引起什么症状。 MDH1 与癌症和神经发育障碍有关。 MDH2 与糖尿病、神经发育障碍和癌症有关。© 2024 作者。由波特兰出版社有限公司代表生化学会出版。

Malate dehydrogenase (MDH) performs key roles in metabolism, but little is known about its function specifically in human health and disease. In this minireview, we describe the incomplete state of our knowledge of human MDH genetics. Humans have three MDH genes with a total of four validated isoforms. MDH1 and MDH2 are widely expressed, while MDH1B is only expressed in a small subset of tissues. Many mutations in MDH1 and MDH2 have been identified in patients, but only a few have been studied to determine what symptoms they cause. MDH1 has been associated with cancer and a neurodevelopmental disorder. MDH2 has been associated with diabetes, neurodevelopmental disorders, and cancer.© 2024 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society.