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OXCT1  -  3-oxoacid CoA transferase 1

Homo sapiens

 
 
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Disease relevance of OXCT1

  • A single approximately 3.2-kb SCOT mRNA is present in human tissues (heart > leukocytes >> fibroblasts), but no signal is detectable in the human hepatoma cell line HepG2 [1].
  • In SCOT-deficient patients retaining some residual activity, permanent ketosis may be absent [2].
  • We constructed a tertiary structural model of human SCOT by homology modeling based on the known structure of Acidaminococcus fermentans glutaconate CoA transferase [3].
  • The leading edge of the rod a-wave recorded from normal observers and patients with congenital stationary night blindness (CSNB) was described by a linear process for flash intensities up to the maximum available flash intensity, 2.0 log scot td-sec [4].
  • In this study, the effect of MAA on the growth of human gastric cancer cells was examined in relation to SCOT expression [5].
 

High impact information on OXCT1

 

Chemical compound and disease context of OXCT1

 

Biological context of OXCT1

  • This paper describes and characterizes three missense mutations in two SCOT-deficient siblings from Japan. They are genetic compounds who inherited the mutation C456F (c1367 G-->T) from their mother [7].
  • Here we describe the human SCOT gene, which spans more than 100 kb and contains 17 exons, on chromosome 5p13 [3].
  • As the level of illumination was raised within this range, the contrast sensitivity of the rod system increased, reaching a peak of about 50 (and providing an acuity of 6 c/deg) at 20 scot. td, whereupon the rod system began to saturate [10].
  • Dark adaptation experiments and spectral sensitivity determinations indicated that, in the adaptational range from about 1.6 to 2.8 log scot td, 530 nm and 440 nm flashes were detected by rod and S cone photoreceptors, respectively [11].
  • The kinds and amounts of the lipids of each stage (egg, coracidium, procercoid, plerocercoid, adult) in the life-cycle of the cestode Spirometra mansonoides, and of environmental lipids, have been examined by combinations of TEAE-cellulose and silicic acid column, silica gel thin-layer and SCOT column gas-liquid chromatography [12].
 

Anatomical context of OXCT1

 

Associations of OXCT1 with chemical compounds

  • Physiologically the two mitochondrial enzymes have different roles: SCOT mediates energy production from ketone bodies (ketolysis), whereas T2 functions both in ketogenesis and ketolysis [13].
  • We hypothesize that the high residual SCOT activity in homogenates may be an artifact caused by use of the substrate, acetoacetyl-CoA by other enzymes [7].
  • A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency [18].
  • After extraction this compound is methylated with diazomethane and determined by gas-liquid chromatography using a capillary SCOT column with a mixed stationary phase, a solid injection system and a nitrogen-selective detector [19].
  • Although he was a pupil of the great John Hunter, the young Astley Cooper possessed good manners and a gift of oratory of which the Scot, his teacher, was devoid [20].
 

Analytical, diagnostic and therapeutic context of OXCT1

References

  1. Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. Kassovska-Bratinova, S., Fukao, T., Song, X.Q., Duncan, A.M., Chen, H.S., Robert, M.F., Pérez-Cerdá, C., Ugarte, M., Chartrand, C., Vobecky, S., Kondo, N., Mitchell, G.A. Am. J. Hum. Genet. (1996) [Pubmed]
  2. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. Fukao, T., Shintaku, H., Kusubae, R., Zhang, G.X., Nakamura, K., Kondo, M., Kondo, N. Pediatr. Res. (2004) [Pubmed]
  3. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Fukao, T., Mitchell, G.A., Song, X.Q., Nakamura, H., Kassovska-Bratinova, S., Orii, K.E., Wraith, J.E., Besley, G., Wanders, R.J., Niezen-Koning, K.E., Berry, G.T., Palmieri, M., Kondo, N. Genomics (2000) [Pubmed]
  4. The A-wave of the human electroretinogram and rod receptor function. Hood, D.C., Birch, D.G. Invest. Ophthalmol. Vis. Sci. (1990) [Pubmed]
  5. Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency. Sawai, M., Yashiro, M., Nishiguchi, Y., Ohira, M., Hirakawa, K. Anticancer Res. (2004) [Pubmed]
  6. A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred. Holtzman, E.J., Kolakowski, L.F., O'Brien, D., Crawford, J.D., Ausiello, D.A. Hum. Mol. Genet. (1993) [Pubmed]
  7. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. Song, X.Q., Fukao, T., Watanabe, H., Shintaku, H., Hirayama, K., Kassovska-Bratinova, S., Kondo, N., Mitchell, G.A. Hum. Mutat. (1998) [Pubmed]
  8. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. Berry, G.T., Fukao, T., Mitchell, G.A., Mazur, A., Ciafre, M., Gibson, J., Kondo, N., Palmieri, M.J. J. Inherit. Metab. Dis. (2001) [Pubmed]
  9. Glutaconate CoA-transferase from Acidaminococcus fermentans: the crystal structure reveals homology with other CoA-transferases. Jacob, U., Mack, M., Clausen, T., Huber, R., Buckel, W., Messerschmidt, A. Structure (1997) [Pubmed]
  10. Shared pathways for rod and cone vision. D'Zmura, M., Lennie, P. Vision Res. (1986) [Pubmed]
  11. Summation of rod and S cone signals at threshold in human observers. Naarendorp, F., Rice, K.S., Sieving, P.A. Vision Res. (1996) [Pubmed]
  12. Lipids of stages in the life-cycle of the cestode Spirometra mansonoides. Beach, D.H., Mueller, J.F., Holz, G.G. Mol. Biochem. Parasitol. (1980) [Pubmed]
  13. Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Fukao, T., Song, X.Q., Mitchell, G.A., Yamaguchi, S., Sukegawa, K., Orii, T., Kondo, N. Pediatr. Res. (1997) [Pubmed]
  14. Acetoacetate utilization by human placental mitochondria. Zołnierowicz, S., Scisłowski, P.W., Swierczyński, J., Zelewski, L. Placenta (1984) [Pubmed]
  15. Practical assay method of cytosolic acetoacetyl-CoA thiolase by rapid release of cytosolic enzymes from cultured lymphocytes using digitonin. Watanabe, H., Yamaguchi, S., Kimura, M., Wakazono, A., Song, X.Q., Fukao, T., Orii, T., Hashimoto, T. Tohoku J. Exp. Med. (1998) [Pubmed]
  16. Transposon-mediated gene trapping in zebrafish. Kotani, T., Nagayoshi, S., Urasaki, A., Kawakami, K. Methods (2006) [Pubmed]
  17. Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency. Fukao, T., Song, X.Q., Watanabe, H., Hirayama, K., Sakazaki, H., Shintaku, H., Imanaka, M., Orii, T., Kondo, N. Prenat. Diagn. (1996) [Pubmed]
  18. A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. Fukao, T., Sakurai, S., Rolland, M.O., Zabot, M.T., Schulze, A., Yamada, K., Kondo, N. Mol. Genet. Metab. (2006) [Pubmed]
  19. Assay of pemoline in human plasma, saliva and urine by capillary gas chromatography with nitrogen-selective detection. Vermeulen, N.P., Teunissen, M.W., Breimer, D.D. J. Chromatogr. (1978) [Pubmed]
  20. Dupuytren's disease or Cooper's contracture?: Kenneth Fitzpatrick Russell Memorial Lecture. Thurston, A. ANZ journal of surgery. (2003) [Pubmed]
 
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