| Entrez Gene ID |
8424 |
| Official Gene Symbol |
BBOX1 (GeneCards) |
| Full name |
gamma-butyrobetaine hydroxylase 1 |
| Location |
11p14.2 |
| Other ids |
Vega : OTTHUMG00000166121
MIM : 603312
HGNC : HGNC:964
Ensembl : ENSG00000129151
|
| Other names |
BBH,
BBOX,
G-BBH,
gamma-BBH
|
| 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, Jul 2008] |