Human | NDUFS7 | 374291 | NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) | |
Human | C8orf38 | 137682 | | |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | PUS1 | 80324 | pseudouridylate synthase 1 | |
Human | C20orf7 | 79133 | | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | PDP1 | 54704 | pyruvate dehyrogenase phosphatase catalytic subunit 1 | |
Human | MRPS16 | 51021 | mitochondrial ribosomal protein S16 | |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | |
Human | ISCU | 23479 | iron-sulfur cluster assembly enzyme | Intron mutation in the ISCU gene, leading to incorrectly spliced mRNA, is the cause of myopathy with lactic acidosis in this family |
Human | LRPPRC | 10128 | leucine-rich pentatricopeptide repeat containing | |
Human | TSFM | 10102 | Ts translation elongation factor, mitochondrial | |
Human | SCO2 | 9997 | SCO2 cytochrome c oxidase assembly protein | |
Human | SUCLA2 | 8803 | succinate-CoA ligase, ADP-forming, beta subunit | |
Human | SUCLG1 | 8802 | succinate-CoA ligase, alpha subunit | |
Human | PDHX | 8050 | pyruvate dehydrogenase complex, component X | |
Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | |
Human | TNF | 7124 | tumor necrosis factor | Lactic acidosis after cardiac surgery is associated with polymorphisms in tumor necrosis factor gene |
Human | TK2 | 7084 | thymidine kinase 2, mitochondrial | |
Human | SURF1 | 6834 | surfeit 1 | |
Human | SDHA | 6389 | succinate dehydrogenase complex, subunit A, flavoprotein (Fp) | Lactic acidosis may occur with stress or infection |
Human | SLC25A3 | 5250 | solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 | SLC25A3 protein deficiency is associated with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia |
Human | PDHA1 | 5160 | pyruvate dehydrogenase (lipoamide) alpha 1 | |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |