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Article

Genetics of MDH in humans.

Essays in biochemistry - 3 Oct 2024

Haberman Adam, Peterson Celeste N

Abstract excerpt

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...

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Source

Identifiers

PMID: 39037390
DOI: 10.1042/EBC20230078

Genes

MDH1
MDH2
MDH1B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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