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BBOX1  -  butyrobetaine (gamma), 2-oxoglutarate...

Homo sapiens

Synonyms: BBH, BBOX, G-BBH, Gamma-BBH, Gamma-butyrobetaine dioxygenase, ...
 
 
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Disease relevance of BBOX1

 

High impact information on BBOX1

 

Chemical compound and disease context of BBOX1

 

Biological context of BBOX1

  • Investigations on BBOX1 mRNA maturation highlighted an alternative polyadenylation mechanism that generates two 3'-untranslated regions differing by their length [7].
  • Our experiments revealed that the transcription initiation of the human BBOX1 gene might occur at 3 different exons, and that the expression level of each type of transcript is organ-specific [7].
  • Heterologous expression of the open reading frame in the yeast Saccharomyces cerevisiae confirmed that the cDNA encodes the human gamma-butyrobetaine hydroxylase [8].
  • Rat liver gamma-butyrobetaine hydroxylase catalyzed reaction: influence of potassium, substrates, and substrate analogues on hydroxylation and decarboxylation [4].
  • There are four functional domains present in CNA, which are catalytic domain (CNa), CNB-binding domain (BBH), CaM-binding domain (CBH) and autoinhibitory domain (AI) [9].
 

Anatomical context of BBOX1

 

Associations of BBOX1 with chemical compounds

 

Analytical, diagnostic and therapeutic context of BBOX1

  • Northern blot analysis showed gamma-butyrobetaine hydroxylase expression in kidney (high), liver (moderate), and brain (very low), while no expression could be detected in the other investigated tissues [8].

References

  1. gamma-Butyrobetaine hydroxylase. Structural characterization of the Pseudomonas enzyme. Rüetschi, U., Nordin, I., Odelhög, B., Jörnvall, H., Lindstedt, S. Eur. J. Biochem. (1993) [Pubmed]
  2. Significance of renal gamma-butyrobetaine hydroxylase for carnitine biosynthesis in man. Rebouche, C.J., Engel, A.G. J. Biol. Chem. (1980) [Pubmed]
  3. Ascorbic acid and carnitine biosynthesis. Rebouche, C.J. Am. J. Clin. Nutr. (1991) [Pubmed]
  4. Rat liver gamma-butyrobetaine hydroxylase catalyzed reaction: influence of potassium, substrates, and substrate analogues on hydroxylation and decarboxylation. Wehbie, R.S., Punekar, N.S., Lardy, H.A. Biochemistry (1988) [Pubmed]
  5. gamma-Butyrobetaine hydroxylase activity in human and ovine liver and skeletal muscle tissue. Cederblad, G., Holm, J., Lindstedt, G., Lindstedt, S., Nordin, I., Scherstén, T. FEBS Lett. (1979) [Pubmed]
  6. Uncoupling and isotope effects in gamma-butyrobetaine hydroxylation. Holme, E., Lindstedt, S., Nordin, I. Biosci. Rep. (1984) [Pubmed]
  7. Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. Rigault, C., Le Borgne, F., Demarquoy, J. Biochim. Biophys. Acta (2006) [Pubmed]
  8. Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. Vaz, F.M., van Gool, S., Ofman, R., Ijlst, L., Wanders, R.J. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  9. Effect of metal ions on the activity of the catalytic domain of calcineurin. Ping, L., Ke, Z., Benqiong, X., Qun, W. Biometals (2004) [Pubmed]
  10. Carnitine biosynthesis in hepatic peroxisomes. Demonstration of gamma-butyrobetaine hydroxylase activity. Paul, H.S., Sekas, G., Adibi, S.A. Eur. J. Biochem. (1992) [Pubmed]
  11. gamma-Butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant. Olson, A.L., Rebouche, C.J. J. Nutr. (1987) [Pubmed]
  12. Carnitine depletion in rat pups from mothers given mildronate: a model of carnitine deficiency in late fetal and neonatal life. Peschechera, A., Scalibastri, M., Russo, F., Giarrizzo, M.G., Carminati, P., Giannessi, F., Arduini, A., Ricciolini, R. Life Sci. (2005) [Pubmed]
 
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