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Gene Review

SLC25A4  -  solute carrier family 25 (mitochondrial...

Homo sapiens

Synonyms: AAC1, ADP,ATP carrier protein 1, ADP,ATP carrier protein, heart/skeletal muscle isoform T1, ADP/ATP translocase 1, ANT, ...
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Disease relevance of SLC25A4


Psychiatry related information on SLC25A4


High impact information on SLC25A4


Chemical compound and disease context of SLC25A4


Biological context of SLC25A4


Anatomical context of SLC25A4


Associations of SLC25A4 with chemical compounds


Regulatory relationships of SLC25A4


Other interactions of SLC25A4

  • Among the Bcl-2-unrelated, mitochondrion-targeted proteins, several interact with the voltage-dependent anion channel (VDAC) or with the adenine nucleotide translocator (ANT) [31].
  • METHODS: Data were obtained from the Massachusetts Male Aging Study, a population-based prospective cohort of 1709 men observed at three time points (T1, 1987-1989; T2, 1995-1997; T3, 2002-2004) [32].
  • RESULTS: No mutation was identified in the PEO1 or SLC25A4 genes [33].
  • The three adenine nucleotide translocator (ANT1 to ANT3) isoforms, differentially expressed in human cells, play a crucial role in cell bioenergetics by catalyzing ADP and ATP exchange across the mitochondrial inner membrane [34].
  • Analysis in s-IBM patients of three nuclear genes associated with multiple mtDNA deletions, POLG1, ANT1 and C10orf2, failed to demonstrate any mutations [35].

Analytical, diagnostic and therapeutic context of SLC25A4


  1. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. Laoudj-Chenivesse, D., Carnac, G., Bisbal, C., Hugon, G., Bouillot, S., Desnuelle, C., Vassetzky, Y., Fernandez, A. J. Mol. Med. (2005) [Pubmed]
  2. Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. Bakker, H.D., Scholte, H.R., Van den Bogert, C., Ruitenbeek, W., Jeneson, J.A., Wanders, R.J., Abeling, N.G., Dorland, B., Sengers, R.C., Van Gennip, A.H. Pediatr. Res. (1993) [Pubmed]
  3. An isoform shift in the cardiac adenine nucleotide translocase expression alters the kinetic properties of the carrier in dilated cardiomyopathy. Dörner, A., Giessen, S., Gaub, R., Grosse Siestrup, H., Schwimmbeck, P.L., Hetzer, R., Poller, W., Schultheiss, H.P. Eur. J. Heart Fail. (2006) [Pubmed]
  4. A helicase is born. Moraes, C.T. Nat. Genet. (2001) [Pubmed]
  5. Control of mitochondrial membrane permeabilization by adenine nucleotide translocator interacting with HIV-1 viral protein rR and Bcl-2. Jacotot, E., Ferri, K.F., El Hamel, C., Brenner, C., Druillennec, S., Hoebeke, J., Rustin, P., Métivier, D., Lenoir, C., Geuskens, M., Vieira, H.L., Loeffler, M., Belzacq, A.S., Briand, J.P., Zamzami, N., Edelman, L., Xie, Z.H., Reed, J.C., Roques, B.P., Kroemer, G. J. Exp. Med. (2001) [Pubmed]
  6. Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. Siciliano, G., Tessa, A., Petrini, S., Mancuso, M., Bruno, C., Grieco, G.S., Malandrini, A., DeFlorio, L., Martini, B., Federico, A., Nappi, G., Santorelli, F.M., Murri, L. Neuromuscul. Disord. (2003) [Pubmed]
  7. Residual outcome expectations and relapse in ex-smokers. Dijkstra, A., Borland, R. Health psychology : official journal of the Division of Health Psychology, American Psychological Association. (2003) [Pubmed]
  8. Cultural affiliation and self-esteem as predictors of internalizing symptoms among mexican american adolescents. McDonald, E.J., McCabe, K., Yeh, M., Lau, A., Garland, A., Hough, R.L. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. (2005) [Pubmed]
  9. Effects of work overload and burnout on cholesterol and triglycerides levels: the moderating effects of emotional reactivity among male and female employees. Shirom, A., Westman, M., Shamai, O., Carel, R.S. Journal of occupational health psychology. (1997) [Pubmed]
  10. Mental development and learning disorders in children with single suture craniosynostosis. Kapp-Simon, K.A. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. (1998) [Pubmed]
  11. Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis. Marzo, I., Brenner, C., Zamzami, N., Jürgensmeier, J.M., Susin, S.A., Vieira, H.L., Prévost, M.C., Xie, Z., Matsuyama, S., Reed, J.C., Kroemer, G. Science (1998) [Pubmed]
  12. Plant mitochondria actively import DNA via the permeability transition pore complex. Koulintchenko, M., Konstantinov, Y., Dietrich, A. EMBO J. (2003) [Pubmed]
  13. Enhanced immunogenicity of HIV-1 vaccine construct by modification of the native peptide sequence. Ahlers, J.D., Takeshita, T., Pendleton, C.D., Berzofsky, J.A. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  14. 31P magnetic resonance spectroscopy in dilated cardiomyopathy and coronary artery disease. Altered cardiac high-energy phosphate metabolism in heart failure. Neubauer, S., Krahe, T., Schindler, R., Horn, M., Hillenbrand, H., Entzeroth, C., Mader, H., Kromer, E.P., Riegger, G.A., Lackner, K. Circulation (1992) [Pubmed]
  15. Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Fontanesi, F., Palmieri, L., Scarcia, P., Lodi, T., Donnini, C., Limongelli, A., Tiranti, V., Zeviani, M., Ferrero, I., Viola, A.M. Hum. Mol. Genet. (2004) [Pubmed]
  16. Chemosensitization by knockdown of adenine nucleotide translocase-2. Le Bras, M., Borgne-Sanchez, A., Touat, Z., El Dein, O.S., Deniaud, A., Maillier, E., Lecellier, G., Rebouillat, D., Lemaire, C., Kroemer, G., Jacotot, E., Brenner, C. Cancer Res. (2006) [Pubmed]
  17. Type Ic, a novel glycogenosis. Underlying mechanism. Nordlie, R.C., Sukalski, K.A., Muñoz, J.M., Baldwin, J.J. J. Biol. Chem. (1983) [Pubmed]
  18. The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. Sharer, J.D. IUBMB Life (2005) [Pubmed]
  19. Glutathione depletion enforces the mitochondrial permeability transition and causes cell death in Bcl-2 overexpressing HL60 cells. Armstrong, J.S., Jones, D.P. FASEB J. (2002) [Pubmed]
  20. Studies on the primary and secondary structure of potato spindle tuber viroid: products of digestion with ribonuclease A and ribonuclease T1, and modification with bisulfite. Domdey, H., Jank, P., Sänger, L., Gross, H.J. Nucleic Acids Res. (1978) [Pubmed]
  21. A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. Komaki, H., Fukazawa, T., Houzen, H., Yoshida, K., Nonaka, I., Goto, Y. Ann. Neurol. (2002) [Pubmed]
  22. A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. Li, K., Warner, C.K., Hodge, J.A., Minoshima, S., Kudoh, J., Fukuyama, R., Maekawa, M., Shimizu, Y., Shimizu, N., Wallace, D.C. J. Biol. Chem. (1989) [Pubmed]
  23. DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. Cozens, A.L., Runswick, M.J., Walker, J.E. J. Mol. Biol. (1989) [Pubmed]
  24. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Jordens, E.Z., Palmieri, L., Huizing, M., van den Heuvel, L.P., Sengers, R.C., Dörner, A., Ruitenbeek, W., Trijbels, F.J., Valsson, J., Sigfusson, G., Palmieri, F., Smeitink, J.A. Ann. Neurol. (2002) [Pubmed]
  25. Recruitment of NF-kappaB into mitochondria is involved in adenine nucleotide translocase 1 (ANT1)-induced apoptosis. Zamora, M., Meroño, C., Viñas, O., Mampel, T. J. Biol. Chem. (2004) [Pubmed]
  26. Microcompartmentation of energy metabolism at the outer mitochondrial membrane: role in diabetes mellitus and other diseases. McCabe, E.R. J. Bioenerg. Biomembr. (1994) [Pubmed]
  27. Solution NMR of proteins within polyacrylamide gels: diffusional properties and residual alignment by mechanical stress or embedding of oriented purple membranes. Sass, H.J., Musco, G., Stahl, S.J., Wingfield, P.T., Grzesiek, S. J. Biomol. NMR (2000) [Pubmed]
  28. The role of creatine kinase in inhibition of mitochondrial permeability transition. O'Gorman, E., Beutner, G., Dolder, M., Koretsky, A.P., Brdiczka, D., Wallimann, T. FEBS Lett. (1997) [Pubmed]
  29. Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders. Huizing, M., Ruitenbeek, W., van den Heuvel, L.P., Dolce, V., Iacobazzi, V., Smeitink, J.A., Palmieri, F., Trijbels, J.M. J. Bioenerg. Biomembr. (1998) [Pubmed]
  30. Ventricular adenine nucleotide translocator mRNA is upregulated in dilated cardiomyopathy. Sylvén, C., Lin, L., Jansson, E., Sotonyi, P., Fu, L.X., Waagstein, F., Hjalmarsson, A., Marcus, C., Brönnegård, M. Cardiovasc. Res. (1993) [Pubmed]
  31. New EMBO members' review: viral and bacterial proteins regulating apoptosis at the mitochondrial level. Boya, P., Roques, B., Kroemer, G. EMBO J. (2001) [Pubmed]
  32. Low sex hormone-binding globulin, total testosterone, and symptomatic androgen deficiency are associated with development of the metabolic syndrome in nonobese men. Kupelian, V., Page, S.T., Araujo, A.B., Travison, T.G., Bremner, W.J., McKinlay, J.B. J. Clin. Endocrinol. Metab. (2006) [Pubmed]
  33. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. González-Vioque, E., Blázquez, A., Fernández-Moreira, D., Bornstein, B., Bautista, J., Arpa, J., Navarro, C., Campos, Y., Fernández-Moreno, M.A., Garesse, R., Arenas, J., Martín, M.A. Arch. Neurol. (2006) [Pubmed]
  34. ANT2 isoform required for cancer cell glycolysis. Chevrollier, A., Loiseau, D., Chabi, B., Renier, G., Douay, O., Malthièry, Y., Stepien, G. J. Bioenerg. Biomembr. (2005) [Pubmed]
  35. Mitochondrial abnormalities in inclusion-body myositis. Oldfors, A., Moslemi, A.R., Jonasson, L., Ohlsson, M., Kollberg, G., Lindberg, C. Neurology (2006) [Pubmed]
  36. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Wijmenga, C., Winokur, S.T., Padberg, G.W., Skraastad, M.I., Altherr, M.R., Wasmuth, J.J., Murray, J.C., Hofker, M.H., Frants, R.R. Hum. Genet. (1993) [Pubmed]
  37. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Di Fonzo, A., Bordoni, A., Crimi, M., Sara, G., Del Bo, R., Bresolin, N., Comi, G.P. Hum. Mutat. (2003) [Pubmed]
  38. Mass spectrometric mapping of ion channel proteins (porins) and identification of their supramolecular membrane assembly. Bühler, S., Michels, J., Wendt, S., Rück, A., Brdiczka, D., Welte, W., Przybylski, M. Proteins (1998) [Pubmed]
  39. Oral creatine supplementation decreases plasma markers of adenine nucleotide degradation during a 1-h cycle test. Bellinger, B.M., Bold, A., Wilson, G.R., Noakes, T.D., Myburgh, K.H. Acta Physiol. Scand. (2000) [Pubmed]
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