| Yeast ORF | Description | Human homologue (GenBank) | Blast E-value | Disease | OMIM entry | Proposed pathophysiological link to mito. |
|---|---|---|---|---|---|---|
| YGL167C (PMR1) | Ca2+-transporting P-type ATPase | ATP2C1 (AF189723) | 0 | Benign chronic pemphigus; Hailey-Hailey disease (HHD) | 604384 | Defects in a paralog to ATP2C1 causes Darier disease, characterized by shrinkage and densification of mitochondria1 |
| YMR167W (MLH1) | DNA mismatch repair protein | MLH1 (NM_000249) | 10-130 | Colorectal cancer, hereditary nonpolyposis, type 2, HNPCC2 | 120436 | Possible apoptosis defect2,3 |
| YAL012W (CYS3) | cystathionine gamma-lyase | CTH (NM_001902) | 10-103 | Cystathioninuria | 219500 | Elevated levels of homocysteine in MTHFR defects result in bizarre, giant mitochondria4 and its accumulation may have similar effect in CTH mutants |
| YGR155W (CYS4) | cystathionine beta-synthase | CBS (NM_000071) | 8x10-87 | Homocystinuria, B6-responsive and nonresponsive types | 236200 | Elevated levels of homocysteine in MTHFR defects result in bizarre, giant mitochondria4 and its accumulation may have similar effect in CBS mutants |
| YJR040W (GEF1) | Voltage-gated chloride channel protein | CLCN5 (NM_000084) | 3x10-85 | Dent disease; Fanconi syndrome renal, with Nephrocalcinosis and renal stones, NPHL2 | 300008 | Defects in chloride homeostasis in CLCN5 mutants may lead to cellular copper accumulation5, which may affect mitochondrial copper levels |
| YOL081W (IRA2) | GTPase-activating protein for RAS proteins | NFI (NM_000267) | 3x10-60 | Neurofibromatosis, type 1; (NF1) von Recklinghausen, Watson disease | 162200 | Possible apoptosis defect2,3 |
| YGL115W (SNF4) | Nuclear regulatory protein, derepression of glucose repressed genes | PRKAG2 (AK001887) | 6x10-41 | Wolff-Parkinson-White syndrome, cardiomyopathy, familial hypertrophic | 602743 | Defects in PRKAG2 have associated with abnormal ATP levels6 |
| YBR289W (SNF5) | component of SWI/SNF transcription activator complex | SMARCB1 (NM_003073) | 5x10-18 | Predisposition to malignant rhabdoid tumors (MRT), brain tumor, posterior fossa of infancy, familial | 601607 | Possible apoptosis defect2,3 |
Mesquita-Guimaraes, J. & Mesquita-Guimaraes, I. Cellular differentiation in Darier's disease. Ultrastructural aspects. J. Submicrosc. Cytol. 16, 387-394 (1984).
Hardman, R.A., Afshari, C.A. & Barrett, J.C. Involvement of mammalian MLH1 in the apoptotic response to peroxide-induced oxidative stress. Cancer Res. 61, 1392-1397 (2001).
Wallace, D.C. Mitochondrial diseases in man and mouse. Science 283, 1482-1488 (1999).
Kanwar, Y.S., Manaligod, J.R. & Wong, P.W. Morphologic studies in a patient with homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. Pediatr. Res. 10, 598-609 (1976).
Davis-Kaplan, S.R., Askwith, C.C., Bengtzen, A.C., Radisky, D. & Kaplan, J. Chloride is an allosteric effector of copper assembly for the yeast multicopper oxidase Fet3p: an unexpected role for intracellular chloride channels. Proc. Natl. Acad. Sci. USA 95, 13641-13645 (1998).
Blair, E. et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Mol. Genet. 10, 1215-1220 (2001).