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Gene information for BBOX1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8424
Official gene symbolBBOX1
Full namebutyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Aliases,BBH,BBOX,G-BBH,gamma-BBH,
Gene summaryThis 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. [provided by RefSeq]
LocationChromosome: 11   Locus: 11p14.2
Gene position27062509 - 27149354  Map Viewer
Gene orientationplus
Gene size86846 bp
Gene sequence
OMIM ID603312