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Chemical Compound Review

HMDB01493     [(2R,3S,4R,5R)-5-(6- aminopurin-9-yl)-4...

Synonyms: AC1L987F, Dimethylacryloyl-CoA, 3-methylcrotonyl-CoA, 3-Methylcrotonoyl-CoA, 3-methylbut-2-enoyl-CoA, ...
 
 
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Disease relevance of C03069

 

High impact information on C03069

 

Chemical compound and disease context of C03069

 

Biological context of C03069

  • It was shown by reassociation experiments under different conditions that probably an initial complex, AxBy is formed, possessing a binding site for 3-methylcrotonyl-CoA [2].
  • Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome [9].
 

Associations of C03069 with other chemical compounds

 

Gene context of C03069

 

Analytical, diagnostic and therapeutic context of C03069

References

  1. Acyl-coenzyme A carboxylases. Homologous 3-methylcrotonyl-CoA and geranyl-CoA carboxylases from Pseudomonas citronellolis. Fall, R.R., Hector, M.L. Biochemistry (1977) [Pubmed]
  2. Investigations of the structure of 3-methylcrotonyl-CoA carboxylase from Achromobacter. Schiele, U., Niedermeier, R., Stürzer, M., Lynen, F. Eur. J. Biochem. (1975) [Pubmed]
  3. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. Holzinger, A., Röschinger, W., Lagler, F., Mayerhofer, P.U., Lichtner, P., Kattenfeld, T., Thuy, L.P., Nyhan, W.L., Koch, H.G., Muntau, A.C., Roscher, A.A. Hum. Mol. Genet. (2001) [Pubmed]
  4. Molecular characterization of the non-biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase. McKean, A.L., Ke, J., Song, J., Che, P., Achenbach, S., Nikolau, B.J., Wurtele, E.S. J. Biol. Chem. (2000) [Pubmed]
  5. Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase. Volchenboum, S.L., Vockley, J. J. Biol. Chem. (2000) [Pubmed]
  6. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Mohsen, A.W., Anderson, B.D., Volchenboum, S.L., Battaile, K.P., Tiffany, K., Roberts, D., Kim, J.J., Vockley, J. Biochemistry (1998) [Pubmed]
  7. Susceptibility to Heat Stress and Aberrant Gene Expression Patterns in Holocarboxylase Synthetase-Deficient Drosophila melanogaster Are Caused by Decreased Biotinylation of Histones, Not of Carboxylases. Camporeale, G., Zempleni, J., Eissenberg, J.C. J. Nutr. (2007) [Pubmed]
  8. Decreased dissociation of the 3-methylcrotonyl-CoA carboxylase complex from Achromobacter in the presence of 3-methylcrotonyl-CoA. A possible regulatory mechanism for the intracellular degradation of the enzyme. Schiele, U., Stürzer, M. Eur. J. Biochem. (1975) [Pubmed]
  9. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. Yano, S., Li, L., Le, T.P., Moseley, K., Guedalia, A., Lee, J., Gonzalez, I., Boles, R.G. J. Inherit. Metab. Dis. (2003) [Pubmed]
  10. Plants contain multiple biotin enzymes: discovery of 3-methylcrotonyl-CoA carboxylase, propionyl-CoA carboxylase and pyruvate carboxylase in the plant kingdom. Wurtele, E.S., Nikolau, B.J. Arch. Biochem. Biophys. (1990) [Pubmed]
  11. Purification and characterization of 3-methylcrotonyl-coenzyme-A carboxylase from leaves of Zea mays. Diez, T.A., Wurtele, E.S., Nikolau, B.J. Arch. Biochem. Biophys. (1994) [Pubmed]
  12. 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection. Narisawa, K., Gibson, K.M., Sweetman, L., Nyhan, W.L. Clin. Chim. Acta (1989) [Pubmed]
  13. Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase. Mohsen, A.W., Vockley, J. Biochemistry (1995) [Pubmed]
  14. Differential effects of biotin deficiency and replenishment on rat liver pyruvate and propionyl-CoA carboxylases and on their mRNAs. Rodríguez-Meléndez, R., Pérez-Andrade, M.E., Díaz, A., Deolarte, A., Camacho-Arroyo, I., Cicerón, I., Ibarra, I., Velázquez, A. Mol. Genet. Metab. (1999) [Pubmed]
  15. Identification of Caenorhabditis elegans isovaleryl-CoA dehydrogenase and structural comparison with other acyl-CoA dehydrogenases. Mohsen, A.W., Navarette, B., Vockley, J. Mol. Genet. Metab. (2001) [Pubmed]
  16. Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatography. Tajima, G., Sakura, N., Yofune, H., Dwi Bahagia Febriani, A., Nishimura, Y., Sakamoto, A., Ono, H., Shigematsu, Y., Kobayashi, M. Clin. Chim. Acta (2005) [Pubmed]
 
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