Document Type
Article
Publication Date
7-22-2024
Journal Title
Essays in Biochemistry
Version
Other: (please specify below)
Other Version(s)
This paper is not published as open access. We do not have rights for rehosting it yet.
Disciplines
Biology | Cell Biology | Genetics | Medical Cell Biology | Medical Genetics
Abstract
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.
Digital USD Citation
Haberman, Adam and Peterson, Celeste N., "Genetics of MDH in humans" (2024). Biology: Faculty Scholarship. 34.
https://digital.sandiego.edu/biology_facpub/34
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