BBOX1
Sign in to saveAlso known as BBH, BBOX, G-BBH, gamma-BBH, gamma-butyrobetaine hydroxylase 1
protein-coding gene in the species Homo sapiens
Gene data
BBOX1- Name
- gamma-butyrobetaine hydroxylase 1
- Type
- protein-coding
- Aliases
- BBH, BBOX, G-BBH, gamma-BBH
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].
via MyGene.info
Gene · Ensembl
gamma-butyrobetaine hydroxylase 1
- Symbol
- BBOX1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:27,040,698-27,186,650
- Strand
- Forward (+)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein BBOX1 PDB 3MS5.png
Show 5 more facts
- HomoloGene ID
- 2967
- exact match
- identifiers.org/ncbigene/8424
- genomic end
- 27149356
- genomic start
- 27062272
- cytogenetic location
- 11p14.2
Sources (4)
via Wikidata · CC0
Connections
alpha-ketoglutaric acid
Entity
Q180686
Entity
Q229883
Entity
carnitine
Entity
beta oxidation
Entity
enzyme inhibitor
Entity
Gene Ontology
Entity
enzyme catalysis
Entity
Ensembl genome database project
Entity
oxygenases
Entity
Latvia
Country
cancer
Entity
diabetes
Entity
enzyme
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Wikidata
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myocardial infarction
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stroke
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gene
Entity
chromosome
Entity
mitochondrion
Entity