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GeneQ18032920· pop 9· linked from 12 articles

BBOX1

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Also 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
Position: 27,040,698–27,186,650 (+)
Aliases: BBH, BBOX, G-BBH, gamma-BBH
Ensembl: ENSG00000129151
RefSeq RNA: NM_001376258.1, NM_001376259.1, NM_001376260.1, NM_001376261.1, NM_003986.3
RefSeq protein: NP_001363187.1, NP_001363188.1, NP_001363189.1, NP_001363190.1, NP_003977.1

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].

Gene Ontology

Biological process

carnitine biosynthetic process carnitine biosynthetic process carnitine biosynthetic process carnitine biosynthetic process carnitine biosynthetic process

Molecular function

iron ion binding protein binding zinc ion binding gamma-butyrobetaine dioxygenase activity gamma-butyrobetaine dioxygenase activity gamma-butyrobetaine dioxygenase activity gamma-butyrobetaine dioxygenase activity gamma-butyrobetaine dioxygenase activity

Cellular component

cytoplasm cytosol cytosol cytosol cytosol extracellular exosome

Pathways

Lysine degradation - Homo sapiens (human)Metabolism Carnitine synthesis Metabolism of amino acids and derivatives

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

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via Wikidata sitelinks · CC0