- BBOX1
Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1, also known as BBOX1, is a human
gene .cite web | title = Entrez Gene: BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8424| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8424| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Rebouche CJ |title=Ascorbic acid and carnitine biosynthesis. |journal=Am. J. Clin. Nutr. |volume=54 |issue= 6 Suppl |pages= 1147S–1152S |year= 1992 |pmid= 1962562 |doi=
*cite journal | author=Paul HS, Sekas G, Adibi SA |title=Carnitine biosynthesis in hepatic peroxisomes. Demonstration of gamma-butyrobetaine hydroxylase activity. |journal=Eur. J. Biochem. |volume=203 |issue= 3 |pages= 599–605 |year= 1992 |pmid= 1735445 |doi=
*cite journal | author=Olson AL, Rebouche CJ |title=gamma-Butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant. |journal=J. Nutr. |volume=117 |issue= 6 |pages= 1024–31 |year= 1987 |pmid= 3110383 |doi=
*cite journal | author=Wehbie RS, Punekar NS, Lardy HA |title=Rat liver gamma-butyrobetaine hydroxylase catalyzed reaction: influence of potassium, substrates, and substrate analogues on hydroxylation and decarboxylation. |journal=Biochemistry |volume=27 |issue= 6 |pages= 2222–8 |year= 1988 |pmid= 3378057 |doi=
*cite journal | author=Lindstedt S, Nordin I |title=Multiple forms of gamma-butyrobetaine hydroxylase (EC 1.14.11.1). |journal=Biochem. J. |volume=223 |issue= 1 |pages= 119–27 |year= 1984 |pmid= 6497835 |doi=
*cite journal | author=Lindstedt G, Lindstedt S, Nordin I |title=Gamma-butyrobetaine hydroxylase in human kidney. |journal=Scand. J. Clin. Lab. Invest. |volume=42 |issue= 6 |pages= 477–85 |year= 1983 |pmid= 7156861 |doi=
*cite journal | author=Vaz FM, van Gool S, Ofman R, "et al." |title=Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. |journal=Biochem. Biophys. Res. Commun. |volume=250 |issue= 2 |pages= 506–10 |year= 1998 |pmid= 9753662 |doi= 10.1006/bbrc.1998.9343
*cite journal | author=Galland S, Le Borgne F, Bouchard F, "et al." |title=Molecular cloning and characterization of the cDNA encoding the rat liver gamma-butyrobetaine hydroxylase. |journal=Biochim. Biophys. Acta |volume=1441 |issue= 1 |pages= 85–92 |year= 1999 |pmid= 10526231 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Rigault C, Le Borgne F, Demarquoy J |title=Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. |journal=Biochim. Biophys. Acta |volume=1761 |issue= 12 |pages= 1469–81 |year= 2007 |pmid= 17110165 |doi= 10.1016/j.bbalip.2006.09.014PBB_Controls
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