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Gene Review

SLC25A15  -  solute carrier family 25 (mitochondrial...

Homo sapiens

Synonyms: D13S327, HHH, Mitochondrial ornithine transporter 1, ORC1, ORNT1, ...
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Disease relevance of SLC25A15


Psychiatry related information on SLC25A15

  • In this article, we report a new patient with HHH syndrome, a 52-year-old woman, who had the typical clinical features, except for an absence of mental retardation [2].
  • Individuals scoring high in the need for Power (n Power), in inhibition, and in the number of power stresses (HHH subjects), reported more severe physical illness and affective symptoms than all other subjects or, in particular, subjects low in n Power, power stress and inhibition (LLL subjects) [6].

High impact information on SLC25A15

  • ORNT1 expression restores ornithine metabolism in fibroblasts from patients with hyperammonaemia-hyperornithinaemia-homocitrullinuria (HHH) syndrome [7].
  • Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome [8].
  • The ORNT1 gene consists of at least six exons, and all exon-intron junction sequences conform to the GT/AG rule [8].
  • We report three novel mutations in the mitochondrial ornithine transporter gene (ORNT1) of Japanese patients with HHH syndrome: a nonsense mutation (R179X) associated with exon skipping and a frameshift, a missense mutation (G27E), and an insertion of AAC between codons 228 and 229, leading to an insertion of the amino acid Asn [8].
  • Discrete aggregates of distended hepatocytes with central nuclei and nonvacuolated clear cytoplasm were present in 5 of the 10 children, including two 2 OTC deficiency, 2 with CPS deficiency, and 1 with HHH [9].

Chemical compound and disease context of SLC25A15


Biological context of SLC25A15


Anatomical context of SLC25A15


Associations of SLC25A15 with chemical compounds

  • We recently characterized the mitochondrial ornithine transporter (ORNT1), the gene defective in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, a urea cycle disorder [15].
  • These results are used as reference values to which are compared values obtained from pregnancies at risk for citrullinaemia, argininosuccinic aciduria, HHH (hyperornithinaemia, hyperammonaemia and homocitrullinaemia) syndrome, cobalamin metabolism disorders (CblC or CblD), and sulphite oxidase deficiency [18].
  • More of the HHH than other subjects also showed above average epinephrine excretion rates in urine and below average concentrations of immunoglobulin A in saliva (S-IgA) [19].

Other interactions of SLC25A15

  • The gene product of ORNT2 is 88% identical to ORNT1, targets to the mitochondria and is expressed in human liver, pancreas, kidney, and cultured fibroblasts from control and HHH patients [15].
  • We subsequently studied distal deletions using the D13S25 probe (13q14.3) and a subtelomeric probe (13qSTP) for the 13q-arm (D13S327) in 40 cases with documented LSI 13 (Rb)/D13S319 deletion and 40 without deletion of these loci [20].

Analytical, diagnostic and therapeutic context of SLC25A15

  • Direct sequencing of the PCR products of SLC25A15 exon amplifications revealed that both brothers were homozygous for a novel 446G deletion in exon 3 as well as for a 760A>T (I254L) polymorphism in exon 5, which is downstream of a premature termination codon produced by the frameshift resulting from the 446G deletion [16].
  • Clinical trials update from the joint European Society and World Congress of Cardiology meeting: PEP-CHF, ACCLAIM and the HHH study [21].
  • The common therapeutic approach to patients, who develop vasospasm following subarachnoid hemorrhage, is usually composed of hypertension, hypervolemia, and hemodilution (HHH) [5].


  1. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Salvi, S., Dionisi-Vici, C., Bertini, E., Verardo, M., Santorelli, F.M. Hum. Mutat. (2001) [Pubmed]
  2. Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. Miyamoto, T., Kanazawa, N., Kato, S., Kawakami, M., Inoue, Y., Kuhara, T., Inoue, T., Takeshita, K., Tsujino, S. J. Hum. Genet. (2001) [Pubmed]
  3. A novel mutation, P126R, in a Japanese patient with HHH syndrome. Miyamoto, T., Kanazawa, N., Hayakawa, C., Tsujino, S. Pediatric neurology. (2002) [Pubmed]
  4. Functional outcome for patients with hemiparesis, hemihypesthesia, and hemianopsia. Does lesion location matter? Dromerick, A.W., Reding, M.J. Stroke (1995) [Pubmed]
  5. Monitoring intravascular volumes to direct hypertensive, hypervolemic therapy in a patient with vasospasm. Segal, E., Greenlee, J.D., Hata, S.J., Perel, A. Journal of neurosurgical anesthesiology. (2004) [Pubmed]
  6. Power motivation, stress and physical illness. McClelland, D.C., Jemmott, J.B. Journal of human stress. (1980) [Pubmed]
  7. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Camacho, J.A., Obie, C., Biery, B., Goodman, B.K., Hu, C.A., Almashanu, S., Steel, G., Casey, R., Lambert, M., Mitchell, G.A., Valle, D. Nat. Genet. (1999) [Pubmed]
  8. Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Tsujino, S., Kanazawa, N., Ohashi, T., Eto, Y., Saito, T., Kira, J., Yamada, T. Ann. Neurol. (2000) [Pubmed]
  9. Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance. Badizadegan, K., Perez-Atayde, A.R. Hepatology (1997) [Pubmed]
  10. The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter. Morizono, H., Woolston, J.E., Colombini, M., Tuchman, M. Mol. Genet. Metab. (2005) [Pubmed]
  11. The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements. Gordon, B.A., Gatfield, D.P., Haust, M.D. Clinical and investigative medicine. Médecine clinique et experimentale. (1987) [Pubmed]
  12. Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome. Camacho, J.A., Mardach, R., Rioseco-Camacho, N., Ruiz-Pesini, E., Derbeneva, O., Andrade, D., Zaldivar, F., Qu, Y., Cederbaum, S.D. Pediatr. Res. (2006) [Pubmed]
  13. A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. Torisu, H., Kira, R., Kanazawa, N., Takemoto, M., Sanefuji, M., Sakai, Y., Tsujino, S., Hara, T. Brain Dev. (2006) [Pubmed]
  14. The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. Fiermonte, G., Dolce, V., David, L., Santorelli, F.M., Dionisi-Vici, C., Palmieri, F., Walker, J.E. J. Biol. Chem. (2003) [Pubmed]
  15. Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. Camacho, J.A., Rioseco-Camacho, N., Andrade, D., Porter, J., Kong, J. Mol. Genet. Metab. (2003) [Pubmed]
  16. Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. Korman, S.H., Kanazawa, N., Abu-Libdeh, B., Gutman, A., Tsujino, S. J. Neurol. Sci. (2004) [Pubmed]
  17. Biochemical analysis of decreased ornithine transport activity in the liver mitochondria from patients with hyperornithinemia, hyperammonemia and homocitrullinuria. Inoue, I., Saheki, T., Kayanuma, K., Uono, M., Nakajima, M., Takeshita, K., Koike, R., Yuasa, T., Miyatake, T., Sakoda, K. Biochim. Biophys. Acta (1988) [Pubmed]
  18. Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies. Rabier, D., Chadefaux-Vekemans, B., Oury, J.F., Aupetit, J., Bardet, J., Gasquet, M., Merhand, E., Parvy, P., Kamoun, P. Prenat. Diagn. (1996) [Pubmed]
  19. Stressed power motivation, sympathetic activation, immune function, and illness. McClelland, D.C., Floor, E., Davidson, R.J., Saron, C. Journal of human stress. (1980) [Pubmed]
  20. Deletions of chromosome 13 in multiple myeloma identified by interphase FISH usually denote large deletions of the q arm or monosomy. Fonseca, R., Oken, M.M., Harrington, D., Bailey, R.J., Van Wier, S.A., Henderson, K.J., Kay, N.E., Van Ness, B., Greipp, P.R., Dewald, G.W. Leukemia (2001) [Pubmed]
  21. Clinical trials update from the joint European Society and World Congress of Cardiology meeting: PEP-CHF, ACCLAIM and the HHH study. Cleland, J.G., Coletta, A.P., Clark, A.L. Eur. J. Heart Fail. (2006) [Pubmed]
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