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BBOX1 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.
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Protein Aliases: butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1; Gamma-BBH; Gamma-butyrobetaine dioxygenase; Gamma-butyrobetaine hydroxylase; Gamma-butyrobetaine,2-oxoglutarate dioxygenase; gamma-butyrobetaine,2-oxoglutarate dioxygenase 1
Gene Aliases: BBH; BBOX; BBOX1; G-BBH; gamma-BBH
UniProt ID: (Human) O75936
Entrez Gene ID: (Human) 8424
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