Web Table B. Yeast orthologs to known human mitochondrial disease genes

gene name
protein ID
yeast ortholog
homozygous deletion
disease
ATP7B S40525 YDR270W class III Wilson disease (WD)
BCKDHA DEHUXA YER178W class III Maple syrup urine disease (MSUD)
BCKDHB A37157 YBR221C class III Maple syrup urine disease (MSUD)
BCS1L Q9Y276 YDR375C class III Tubulopathy, encephalopathy, and liver failure due to CIII deficiency
COX10 Q12887 YPL172C class III Deficiency of complex IV
DBT A32422 YDR148C class III Maple syrup urine disease (MSUD)
DLD DEHULP YFL018C class III Dihydrolipoamide dehydrogenase deficiency;Leigh syndrome
FH UFHUM YPL262W class III Deficiency of fumarate hydratase
GCSH GCHUH YAL044C class III Non-ketotic hyperglycinemia, type III (NKH3)
HHH AF112968 YDL198C;YNL003C class III Deficiency of ornithine translocase
MTHFD1 A31903 YBR084W class III Deficiency of MTHFD1
PDHA1 DEHUPA YER178W class III Pyruvate dehydrogenase deficiency;Leigh syndrome
PDX1 U82328 YNL071W class III Pyruvate dehydrogenase deficiency
POLG G02750 YOR330C class III Progressive external ophthalmoplegia with mitochondrial DNA deletions (PEO); Involved in male infertility (MI)
PPOX PPOX_HUMAN YER014W class III Porphyria variegata (VP)
SCO1 O75880 YBR037C class III Deficiency of complex IV
SCO2 AL021683 YBR037C class III Fatal infantile cardioencephalomyopathy due to Cox deficiency
SDHA JX0336 YKL148C class III Leigh syndrome;Deficiency of succinate dehydrogenase
SDHB A34045 YLL041C class III Familial extraadrenal Pheochromocytoma
SPG7 Y16610 YMR089C class III Hereditary spastic paraplegia (HSP)
SURF1 S57749 YGR112W class III Leigh syndrome
ABAT GABT_HUMAN YGR019W not class III Deficiency of GABA-transaminase
ACADS A30605 YGL205W not class III SCAD deficiency
AGXT P21549 YFL030W not class III Primary hyperoxaluria, type I
ALDH2 DEHUE2 YMR170C not class III Alcohol intolerance, acute
ALDH4 PUT2_HUMAN YHR037W not class III Hyperprolinemia, type II (HPII)
AMT I54192 YDR019C not class III Non-ketotic hyperglycinemia, type II (NKH2)
CPS1 JQ1348 YJL130C not class III Hyperammonemia, type I
CPT1A I59351 YML042W not class III Carnitine O-palmitoyltransferase I deficiency
CPT2 A39018 YAR035W not class III Carnitine O-palmitoyltransferase II deficiency
CYB5 CBHU5 YNL111C not class III Methemoglobinemia (type IV) due to deficiency of CYB5
DMGDH M2GD_HUMAN YDR019C not class III Dimethylglycine dehydrogenase deficiency (DMGDHD)
ETFA A31998 YPR004c not class III Glutaric aciduria, type IIa (GAIIa)
ETFB S32482 YGR207c not class III Glutaric aciduria, type IIb (GAIIb)
ETFDH Q16134 YOR356w not class III Glutaric aciduria, type IIc (GAIIc)
FECH A36403 YOR176W not class III Erythropoietic protoporphyria (EPP)
GCK A46157 YFR053C not class III Diabetes mellitus, type II (NIDDM)
GK GLPK_HUMAN YHL032C not class III Glycerol kinase deficiency (GKD)
GLDC B39521 YMR189W not class III Non-ketotic hyperglycinemia, type I (NKH1)
GLUD1 DEHUE YAL062W not class III Hyperinsulinism-Hyperammonemia syndrome (HHS)
GPD2 GPDM_HUMAN YIL155C not class III Diabetes mellitus, type II (NIDDM)
HADHA JC2108 YDR036c not class III Trifunctional enzyme deficiency;Maternal acute fatty liver of pregnancy (AFLP)
HK1 A31869 YFR053C not class III Hemolytic anemia due to hexokinase deficiency
HMGCS2 S51103 YML126C not class III Deficiency of HMGCS2
KIF1B KF1B_HUMAN YGL216W not class III Charcot-Marie-Tooth disease (CMT2A)
MMSDH MMSA_HUMAN YOR374W not class III Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)
OAT XNHUO YLR438W not class III Ornithinemia with gyrate atrophy (GA)
OPA1 T00336 YLL001W not class III Optic atrophy (OPA1)
OTC OWHU YJL088w not class III Hyperammonemia, type II
PC JC2460 YGL062W not class III Deficiency of pyruvate carboxylase, type I and II
PCCA A27883 YBR208C not class III Propionic acidemia, type I (PA-1)
SLC25A13 NP_055066 YPR021c not class III Citrullinemia, type II (CTLN2)
SLC25A20 Y10319 YOR100c not class III Carnitine-acylcarnitine translocase deficiency
TAT S10887 YJL060w not class III Tyrosine transaminase deficiency, type II (Richner-Hanhart syndrome)
ABC7 ABC7_HUMAN YMR301C not measured X-linked sideroblastic anemia and ataxia (XLSA/A)
ACAT1 JH0255 YPL028W not measured Deficiency of 3-ketothiolase (3KTD)
ALAS2 SYHUAE YDR232W not measured X-linked sideroblastic anemia (XLSA)
CPO I52444 YDR044W not measured Hereditary coproporphyria (HCP)
DFN1 U66035 YJR135W-A not measured Mohr-Tranebjaerg syndrome (MTS)
DIA1 RDHUB5 YML125c not measured Methemoglobinemia (type I, and II) due to deficiency of CYB5
FRDA1 U43747 YDL120W not measured Friedreich ataxia 1
HADHB JC2109 YPL028w not measured Trifunctional enzyme deficiency
HLCS BPL1_HUMAN YDL141W not measured Biotin-responsive multiple carboxylase deficiency
HSD3B2 DEHUH2 YGL001C not measured Congenital adrenal hyperplasia (CAH)
MPO OPHUM YJR151c not measured Myeloperoxidase deficiency (MPOD)
OGG1 U96710 YGL201C not measured Hereditary renal cell carcinoma (RCC1)
PCCB A53020 YNR016C not measured Propionic acidemia, type II (PA-2)
SLC25A4 A44778 YBR085W not measured Chronic progressive external ophthalmoplegia, type III (CPEO3);Mitochondrial myopathy and cardiomyopathy (MiMyCa)
UROS A40483 YOR278W not measured Congenital erythropietic porphyria (CEP)
ACADL A40559 no ortholog no ortholog LCAD deficiency
ACADM I52240 no ortholog no ortholog MCAD deficiency
ACADSB A55680 no ortholog no ortholog 2-alpha-methylbutyrylglycinuria
ACADVL ACDB_HUMAN no ortholog no ortholog VLCAD deficiency
AMACR CAB44062 no ortholog no ortholog Alpha-methylacyl-CoA racemase deficiency (AMACRD)
C10ORF2 AF292004_1 no ortholog no ortholog Autosomal dominant progressive external ophthalmoplegia (adPEO)
CYP11B1 S11338 no ortholog no ortholog Adrenal hyperplasia, type IV (AH-IV)
CYP11B2 B34181 no ortholog no ortholog Deficiency of corticosterone methyloxidase, type II (CMO)
CYP27 A39740 no ortholog no ortholog Cerebrotendinous xanthomatosis (CTX)
DGUOK JC6142 no ortholog no ortholog Mitochondrial DNA-depletion syndrome, hepatocerebral form (MDS)
ECGF1 P19971 no ortholog no ortholog Myoneurogastrointestinal encephalopathy syndrome (MNGIE)
EFE2 TFZ_HUMAN no ortholog no ortholog Barth syndrome
GCDH GCDH_HUMAN no ortholog no ortholog Glutaric aciduria, type I (GA-I)
HMGCL A45470 no ortholog no ortholog Hydroxymethylglutaricaciduria (HMGCL)
IVD A37033 no ortholog no ortholog Isovaleric acidemia (IVA)
MAOA A36175 no ortholog no ortholog Brunner's syndrome
MCCC1 NP_064551 no ortholog no ortholog 3-Methylcrotonylglycinuria 1
MCD DCMC_HUMAN no ortholog no ortholog Malonyl-CoA decarboxylase deficiency (MLYCD)
MUT S40622 no ortholog no ortholog Methylmalonic acidemia (MUT-, MUT0 type)
NDUFS1 S17854 no ortholog no ortholog Deficiency of complex I
NDUFS4 NUYM_HUMAN no ortholog no ortholog Leigh syndrome
NDUFS7 O75251 no ortholog no ortholog Leigh syndrome
NDUFS8 NUIM_HUMAN no ortholog no ortholog Leigh syndrome
NDUFV1 A44362 no ortholog no ortholog Alexander disease;Leigh syndrome
OPA3 NM_025136 no ortholog no ortholog 3-methylglutaconicaciduria, type III
OXCT SCOT_HUMAN no ortholog no ortholog Deficiency of Succinyl-CoA:3-oxoacid-CoA transferase
SDHC D49737 no ortholog no ortholog Hereditary paraganglioma, type III (PGL3)
SDHD DHSD_HUMAN no ortholog no ortholog Hereditary paraganglioma, type I (PGL1)
STAR I38896 no ortholog no ortholog Congenital lipoid adrenal hyperplasia
SUOX S55874 no ortholog no ortholog Sulfocysteinuria
TK2 KIHUT no ortholog no ortholog Mitochondrial DNA-depletion syndrome (MDS)
TPO OPHUIT no ortholog no ortholog Iodide peroxidase deficiency (IPD)
WFS Y18064 no ortholog no ortholog DIDMOAD

Notes: Orthologs were found by searching human genes in UniGene (4/7/02). No ortholog means that UniGene listed no yeast ortholog for this gene. Not measured means that the yeast ortholog was either lethal or not detected as a homozygous diploid knockout. Not class III means that the gene did not group into class III (genes with a non-fermentable growth defect). Class III means that it did fall into this group.