Entrez gene ID | | 8424 |
Official gene symbol | | BBOX1 |
Full name | | butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 |
Aliases | | ,BBH,BBOX,G-BBH,gamma-BBH, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11p14.2 |
Gene position | | 27062509 - 27149354 Map Viewer |
Gene orientation | | plus |
Gene size | | 86846 bp |
Gene sequence |
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OMIM ID | | 603312 |