Gamma-butyrobetaine dioxygenase

BBOX1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3MS5, 3N6W, 3O2G, 4BG1, 4BGK, 4BGM, 4BHF, 4BHG, 4BHI, 4C5W, 4C8R, 4CWD
Identifiers
Aliases	BBOX1, BBH, BBOX, G-BBH, gamma-BBH, gamma-butyrobetaine hydroxylase 1
External IDs	OMIM: 603312; MGI: 1891372; HomoloGene: 2967; GeneCards: BBOX1; OMA:BBOX1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	27,127,809 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	110,144,905 bp
RNA expression pattern
	Top expressed in
	kidney tubule; ; glomerulus; ; human kidney; ; gingival epithelium; ; metanephric glomerulus; ; skin of thigh; ; renal medulla; ; skin of hip; ; external globus pallidus; ; skin of arm;
	Top expressed in
	vestibular membrane of cochlear duct; ; left lobe of liver; ; skin of external ear; ; lumbar subsegment of spinal cord; ; lip; ; skin of back; ; deep cerebellar nuclei; ; epidermis; ; substantia nigra; ; hair follicle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	iron ion binding; oxidoreductase activity; zinc ion binding; protein binding; dioxygenase activity; metal ion binding; identical protein binding; gamma-butyrobetaine dioxygenase activity; oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;
Cellular component	cytoplasm; cytosol; extracellular exosome; mitochondrion;
Biological process	carnitine biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	8424
	170442
	ENSG00000129151
	ENSMUSG00000041660
	O75936
	Q924Y0
	NM_003986; NM_001376258; NM_001376259; NM_001376260; NM_001376261
	NM_130452
	NP_003977; NP_001363187; NP_001363188; NP_001363189; NP_001363190
	NP_569719
	Wikidata
View/Edit Human	View/Edit Mouse

Gamma-butyrobetaine dioxygenase (also known as BBOX, GBBH or γ-butyrobetaine hydroxylase) is an enzyme that in humans is encoded by the BBOX1 gene. Gamma-butyrobetaine dioxygenase catalyses the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthesis pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta oxidation. In humans, gamma-butyrobetaine dioxygenase can be found in the kidney (high), liver (moderate), and brain (very low). BBOX1 has recently been identified as a potential cancer gene based on a large-scale microarray data analysis.