Structural highlights
Disease
MDHC_HUMAN The disease is caused by variants affecting the gene represented in this entry.
Function
MDHC_HUMAN Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237).[1] [2]
See Also
References
- ↑ Friedrich CA, Ferrell RE, Siciliano MJ, Kitto GB. Biochemical and genetic identity of alpha-keto acid reductase and cytoplasmic malate dehydrogenase from human erythrocytes. Ann Hum Genet. 1988 Jan;52(1):25-37. doi: 10.1111/j.1469-1809.1988.tb01075.x. PMID:3052244 doi:https://dx.doi.org/10.1111/j.1469-1809.1988.tb01075.x
- ↑ Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS. MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy. Hum Genet. 2019 Dec;138(11-12):1247-1257. doi: 10.1007/s00439-019-02063-z. Epub, 2019 Sep 19. PMID:31538237 doi:https://dx.doi.org/10.1007/s00439-019-02063-z
