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Gene Review

SLC25A20  -  solute carrier family 25...

Homo sapiens

Synonyms: CAC, CACT, Carnitine/acylcarnitine translocase, Mitochondrial carnitine/acylcarnitine carrier protein, Solute carrier family 25 member 20
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Disease relevance of SLC25A20

  • Indeed, all the described effects were completely overcome by CACT neo-expression by recombinant adenovirus vector or by addition of acetyl-carnitine to cultures [1].
  • CACT deficiency is a life-threatening, recessively inherited disorder of lipid beta-oxidation which manifests in early infancy with hypoketotic hypoglycemia, cardiomyopathy, liver failure, and muscle weakness [2].
  • The deleterious effect of the p.Arg133Trp substitution was demonstrated by measuring CACT activity upon expression of the normal and the mutant protein in E. coli and functional reconstitution into liposomes [2].
  • Heterozygosity for a G-->C mutation converting the highly conserved Gln184 (CAG) to His (CAC) was identified at the last nucleotide of exon 7 of the protein C gene in two family members with deep vein thrombosis [3].
  • To administer equitoxic doses at each cycle, the drug dosages were adjusted according to the hematologic toxicities experienced after the previous course; 44.7% of CAC and 21.1% of PAC patients required a dosage reduction at the second course (P = .002) [4].

Psychiatry related information on SLC25A20


High impact information on SLC25A20


Chemical compound and disease context of SLC25A20


Biological context of SLC25A20

  • We cloned and sequenced the human CAC cDNA, which has an open reading frame of 903 nucleotides [15].
  • To probe the effect of CACT down-expression on lipid metabolism in muscle, human myocytes were stably transfected with CACT-antisense construct [1].
  • All the introns except one are located at the level of the sequences coding for the extramembranous loops of CACT [16].
  • We have designed a series of intronic oligonucleotide primers for amplifying each of the CACT exons together with their flanking intronic sequences, in segments well suited to detect mutations that would affect splicing of mRNA as well as the coding sequence itself [16].
  • Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization [17].

Anatomical context of SLC25A20

  • The carnitine-acylcarnitine carrier (CAC) catalyzes the translocation of long-chain fatty acids across the inner mitochondrial membrane [15].
  • The carnitine/acylcarnitine translocase (CACT) transports acylcarnitines into mitochondria in exchange for free carnitine and it is, therefore, essential for the fatty acid beta-oxidation pathway [16].
  • CACT activity was totally deficient in cultured skin fibroblasts from all three patients [18].
  • We describe the cellular and molecular biologic studies of the erythrocyte pyruvate kinase (PK) deficiency of the Amish deme in Pennsylvania. Nucleotide sequencing of the patient's PK gene showed a point mutation, CGC to CAC, corresponding to no [19].
  • Introduction: This analysis studied the association of spine volumetric BMD (vBMD) with aortic (AC) and coronary artery (CAC) calcification in middle-aged women and evaluated whether such associations were independent of age and shared risk factors between osteoporosis and cardiovascular disease (CVD) or explained by endogenous estradiol levels [20].

Associations of SLC25A20 with chemical compounds

  • Import of acylcarnitine into mitochondrial matrix through carnitine/acylcarnitine-translocase (CACT) is fundamental for lipid catabolism [1].
  • Thus, in our experimental model the modulation of CACT expression has consequences for CPT 1 activity, while the biologic effects of acetyl-carnitine are not associated with a generic supply of energy compounds but to the anaplerotic property of the molecule [1].
  • Neither CAC nor PAC caused any clinically relevant neuro-nephrotoxicity; however, CDDP was administered with hydration and forced diuresis, while carboplatin was administered by rapid intravenous (IV) infusion [4].
  • Structural features at the extra adenosine bulge sites in DNA duplexes have been elucidated from an NMR analysis of two-dimensional through space and through bond connectivities in the self-complementary d(C-C-G-G-A-A-T-T-C-A-C-G-G) (CAC 13-mer) and d(C-C-G-A-G-A-A-T-T-C-C-G-G) (GAG 13-mer) duplexes in aqueous solution [21].
  • Estradiol did not influence this association. vBMD was related to high CAC in unadjusted (OR = 1.35; 95% CI, 1.08-1.70) but not adjusted models [20].

Other interactions of SLC25A20


Analytical, diagnostic and therapeutic context of SLC25A20


  1. Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells. Peluso, G., Petillo, O., Margarucci, S., Grippo, P., Melone, M.A., Tuccillo, F., Calvani, M. J. Cell. Physiol. (2005) [Pubmed]
  2. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Iacobazzi, V., Invernizzi, F., Baratta, S., Pons, R., Chung, W., Garavaglia, B., Dionisi-Vici, C., Ribes, A., Parini, R., Huertas, M.D., Roldan, S., Lauria, G., Palmieri, F., Taroni, F. Hum. Mutat. (2004) [Pubmed]
  3. Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Lind, B., van Solinge, W.W., Schwartz, M., Thorsen, S. Blood (1993) [Pubmed]
  4. Carboplatin, doxorubicin, and cyclophosphamide versus cisplatin, doxorubicin, and cyclophosphamide: a randomized trial in stage III-IV epithelial ovarian carcinoma. Conte, P.F., Bruzzone, M., Carnino, F., Chiara, S., Donadio, M., Facchini, V., Fioretti, P., Foglia, G., Gadducci, A., Gallo, L. J. Clin. Oncol. (1991) [Pubmed]
  5. Is alcohol consumption associated with calcified atherosclerotic plaque in the coronary arteries and aorta? Ellison, R.C., Zhang, Y., Hopkins, P.N., Knox, S., Djoussé, L., Carr, J.J. Am. Heart J. (2006) [Pubmed]
  6. SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene. Yokoyama, C., Wang, X., Briggs, M.R., Admon, A., Wu, J., Hua, X., Goldstein, J.L., Brown, M.S. Cell (1993) [Pubmed]
  7. Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. Stanley, C.A., Hale, D.E., Berry, G.T., Deleeuw, S., Boxer, J., Bonnefont, J.P. N. Engl. J. Med. (1992) [Pubmed]
  8. Ultraviolet radiation sensitivity and reduction of telomeric silencing in Saccharomyces cerevisiae cells lacking chromatin assembly factor-I. Kaufman, P.D., Kobayashi, R., Stillman, B. Genes Dev. (1997) [Pubmed]
  9. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. Pande, S.V., Brivet, M., Slama, A., Demaugre, F., Aufrant, C., Saudubray, J.M. J. Clin. Invest. (1993) [Pubmed]
  10. A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. White, P.C., Dupont, J., New, M.I., Leiberman, E., Hochberg, Z., Rösler, A. J. Clin. Invest. (1991) [Pubmed]
  11. Infrequent mutations of the TP53 gene and no amplification of the MDM2 gene in hepatoblastomas. Ohnishi, H., Kawamura, M., Hanada, R., Kaneko, Y., Tsunoda, Y., Hongo, T., Bessho, F., Yokomori, K., Hayashi, Y. Genes Chromosomes Cancer (1996) [Pubmed]
  12. A phase III comparison trial of streptozotocin, mitomycin, and 5-fluorouracil with cisplatin, cytosine arabinoside, and caffeine in patients with advanced pancreatic carcinoma. Kelsen, D., Hudis, C., Niedzwiecki, D., Dougherty, J., Casper, E., Botet, J., Vinciguerra, V., Rosenbluth, R. Cancer (1991) [Pubmed]
  13. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Bonnet, D., Martin, D., Pascale De Lonlay, n.u.l.l., Villain, E., Jouvet, P., Rabier, D., Brivet, M., Saudubray, J.M. Circulation (1999) [Pubmed]
  14. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Rubio-Gozalbo, M.E., Bakker, J.A., Waterham, H.R., Wanders, R.J. Mol. Aspects Med. (2004) [Pubmed]
  15. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Huizing, M., Iacobazzi, V., Ijlst, L., Savelkoul, P., Ruitenbeek, W., van den Heuvel, L., Indiveri, C., Smeitink, J., Trijbels, F., Wanders, R., Palmieri, F. Am. J. Hum. Genet. (1997) [Pubmed]
  16. The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2. Iacobazzi, V., Naglieri, M.A., Stanley, C.A., Wanders, R.J., Palmieri, F. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  17. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. Viggiano, L., Iacobazzi, V., Marzella, R., Cassano, C., Rocchi, M., Palmieri, F. Cytogenet. Cell Genet. (1997) [Pubmed]
  18. Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. Hsu, B.Y., Iacobazzi, V., Wang, Z., Harvie, H., Chalmers, R.A., Saudubray, J.M., Palmieri, F., Ganguly, A., Stanley, C.A. Mol. Genet. Metab. (2001) [Pubmed]
  19. Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. Kanno, H., Ballas, S.K., Miwa, S., Fujii, H., Bowman, H.S. Blood (1994) [Pubmed]
  20. Volumetric BMD and Vascular Calcification in Middle-Aged Women: The Study of Women's Health Across the Nation. Farhat, G.N., Cauley, J.A., Matthews, K.A., Newman, A.B., Johnston, J., Mackey, R., Edmundowicz, D., Sutton-Tyrrell, K. J. Bone Miner. Res. (2006) [Pubmed]
  21. Conformation of adenosine bulge-containing deoxytridecanucleotide duplexes in solution. Extra adenosine stacks into duplex independent of flanking sequence and temperature. Kalnik, M.W., Norman, D.G., Swann, P.F., Patel, D.J. J. Biol. Chem. (1989) [Pubmed]
  22. Control of mitochondrial beta-oxidation flux. Eaton, S. Prog. Lipid Res. (2002) [Pubmed]
  23. Evidence for an association between metabolic cardiovascular syndrome and coronary and aortic calcification among women with polycystic ovary syndrome. Talbott, E.O., Zborowski, J.V., Rager, J.R., Boudreaux, M.Y., Edmundowicz, D.A., Guzick, D.S. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  24. Interpretation of serum phenytoin concentrations in uremia is assay-dependent. Sirgo, M.A., Green, P.J., Rocci, M.L., Vlasses, P.H. Neurology (1984) [Pubmed]
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