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FLASH GENE
Symbol BBOX1 contributors: npt/mct - updated : 19/11/2008
HGNC name butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
HGNC id 964
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   moderately
Hearing/Equilibriumear   highly
Nervousbrain   lowly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Bbox1
Homologene
FAMILY
  • GAMMA-BBH/TMLD family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the formation of L-carnitine from gamma-butyrobutyrate, last step of L-carnitine biosynthesis
  • enzyme responsible for the biosynthesis of l-carnitine, a key molecule of fatty acid metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • iron and ascorbate
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS