|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).