BBOX1

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Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Identifiers
Symbols BBOX1 ; BBH; BBOX; G-BBH; gamma-BBH
External IDs Template:OMIM5 Template:MGI HomoloGene: 2967
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1, also known as BBOX1, is a human gene.[1]

This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1".

Further reading

  • Rebouche CJ (1992). "Ascorbic acid and carnitine biosynthesis". Am. J. Clin. Nutr. 54 (6 Suppl): 1147S–1152S. PMID 1962562.
  • Paul HS, Sekas G, Adibi SA (1992). "Carnitine biosynthesis in hepatic peroxisomes. Demonstration of gamma-butyrobetaine hydroxylase activity". Eur. J. Biochem. 203 (3): 599–605. PMID 1735445.
  • Olson AL, Rebouche CJ (1987). "gamma-Butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant". J. Nutr. 117 (6): 1024–31. PMID 3110383.
  • Wehbie RS, Punekar NS, Lardy HA (1988). "Rat liver gamma-butyrobetaine hydroxylase catalyzed reaction: influence of potassium, substrates, and substrate analogues on hydroxylation and decarboxylation". Biochemistry. 27 (6): 2222–8. PMID 3378057.
  • Lindstedt S, Nordin I (1984). "Multiple forms of gamma-butyrobetaine hydroxylase (EC 1.14.11.1)". Biochem. J. 223 (1): 119–27. PMID 6497835.
  • Lindstedt G, Lindstedt S, Nordin I (1983). "Gamma-butyrobetaine hydroxylase in human kidney". Scand. J. Clin. Lab. Invest. 42 (6): 477–85. PMID 7156861.
  • Vaz FM, van Gool S, Ofman R; et al. (1998). "Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase". Biochem. Biophys. Res. Commun. 250 (2): 506–10. doi:10.1006/bbrc.1998.9343. PMID 9753662.
  • Galland S, Le Borgne F, Bouchard F; et al. (1999). "Molecular cloning and characterization of the cDNA encoding the rat liver gamma-butyrobetaine hydroxylase". Biochim. Biophys. Acta. 1441 (1): 85–92. PMID 10526231.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
  • Rigault C, Le Borgne F, Demarquoy J (2007). "Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene". Biochim. Biophys. Acta. 1761 (12): 1469–81. doi:10.1016/j.bbalip.2006.09.014. PMID 17110165.

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