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Gene: BBOX1 (gamma-butyrobetaine hydroxylase 1) Homo sapiens
Symbol: BBOX1
Name: gamma-butyrobetaine hydroxylase 1
CRRD ID: 732171
Description: Exhibits gamma-butyrobetaine dioxygenase activity; identical protein binding activity; and zinc ion binding activity. Involved in carnitine biosynthetic process. Localizes to extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BBH; BBOX; butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1; G-BBH; gamma-BBH; gamma-butyrobetaine dioxygenase; gamma-butyrobetaine hydroxylase; gamma-butyrobetaine,2-oxoglutarate dioxygenase 1
Mus musculus (house mouse) : Bbox1 (butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase))  MGI  Alliance
Rattus norvegicus (Norway rat) : Bbox1 (gamma-butyrobetaine hydroxylase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Bbox1 (gamma-butyrobetaine hydroxylase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : BBOX1 (gamma-butyrobetaine hydroxylase 1)
Canis lupus familiaris (dog) : BBOX1 (gamma-butyrobetaine hydroxylase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Bbox1 (gamma-butyrobetaine hydroxylase 1)
Sus scrofa (pig) : BBOX1 (gamma-butyrobetaine hydroxylase 1)
Chlorocebus sabaeus (African green monkey) : BBOX1 (gamma-butyrobetaine hydroxylase 1)
Heterocephalus glaber (naked mole-rat) : Bbox1 (gamma-butyrobetaine hydroxylase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1127,040,725 - 27,127,809 (+)EnsemblGRCh38hg38GRCh38
GRCh381127,040,705 - 27,127,809 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371127,062,252 - 27,149,354 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361127,019,085 - 27,105,930 (+)NCBINCBI36hg18NCBI36
Build 341127,019,573 - 27,105,930NCBI
Celera1127,207,166 - 27,294,016 (+)NCBI
Cytogenetic Map11p14.2NCBI
HuRef1126,759,908 - 26,847,062 (+)NCBIHuRef
CHM1_11127,061,931 - 27,148,767 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on BBOX1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732171
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-10-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.