RGD Reference Report - Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase. - Rat Genome Database
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Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.

Authors: Vaz, FM  Van Gool, S  Ofman, R  Ijlst, L  Wanders, RJ 
Citation: Vaz FM, etal., Biochem Biophys Res Commun. 1998 Sep 18;250(2):506-10.
RGD ID: 8554503
Pubmed: (View Article at PubMed) PMID:9753662
DOI: Full-text: DOI:10.1006/bbrc.1998.9343

gamma-Butyrobetaine hydroxylase (EC 1.14.11.1) is the last enzyme in the biosynthetic pathway of L-carnitine and catalyzes the formation of L-carnitine from gamma-butyrobetaine, a reaction dependent on alpha-ketoglutarate, Fe2+, and oxygen. We report the purification of the protein from rat liver to apparent homogeneity, which allowed N-terminal sequencing using Edman degradation. The obtained amino acid sequence was used to screen the expressed sequence tag database and led to the identification of a human cDNA containing an open reading frame of 1161 base pairs encoding a polypeptide of 387 amino acids with a predicted molecular weight of 44.7 kDa. Heterologous expression of the open reading frame in the yeast Saccharomyces cerevisiae confirmed that the cDNA encodes the human gamma-butyrobetaine hydroxylase. 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.

Annotation

Gene Ontology Annotations    

Biological Process

Molecular Function

Objects Annotated

Genes (Rattus norvegicus)
Bbox1  (gamma-butyrobetaine hydroxylase 1)


Additional Information