BBOX1 Gene (Gamma-Butyrobetaine Hydroxylase 1)
Key enzyme in carnitine biosynthesis and fatty acid metabolism
Gene Information Card
| Symbol | BBOX1 |
|---|---|
| Full Name | Gamma-butyrobetaine hydroxylase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p14.2 |
| NCBI Gene ID | 8424 ncbi.nlm.nih.gov/gene/8424 |
| Ensembl ID | ENSG00000148737 |
| UniProt ID | O75936 |
| OMIM ID | 603314 |
| HGNC ID | 963 |
| Aliases | BBH, BBOX, gamma-BBH, GBBH |
Description
The BBOX1 gene encodes gamma-butyrobetaine hydroxylase, a dioxygenase that catalyzes the final step in L-carnitine biosynthesis, converting gamma-butyrobetaine to L-carnitine. This enzyme requires iron and 2-oxoglutarate as cofactors and is primarily expressed in kidney, liver, and brain. L-carnitine is essential for mitochondrial fatty acid oxidation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnitine deficiency, systemic primary | Deficiency in BBOX1 reduces carnitine synthesis, impairing fatty acid transport into mitochondria | ClinVar, OMIM |
| Hypoglycemia, ketotic | Impaired carnitine production leads to defective fatty acid oxidation and hypoglycemia | ClinVar |
| Cardiomyopathy, hypertrophic | Carnitine deficiency secondary to BBOX1 mutations may contribute to cardiac dysfunction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Heart | 2.4 | Low |
| Skeletal muscle | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 9.7 | Moderate expression in liver carcinoma cells |
| SH-SY5Y | 5.4 | Low expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1342C>T (p.Arg448Trp) | Missense | Rare | Reduced enzyme activity; associated with carnitine deficiency |
| c.1075G>A (p.Gly359Ser) | Missense | Rare | Impaired substrate binding; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish gamma-butyrobetaine hydroxylase activity, leading to carnitine deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for BBOX1.
Dominant Negative (DN)
No dominant-negative mutations reported for BBOX1.
View complete mutation data：
Gene Ontology (GO)
| • gamma-butyrobetaine dioxygenase activity | • iron ion binding |
| • 2-oxoglutarate-dependent dioxygenase activity | • carnitine biosynthetic process |
| • oxidation-reduction process |
Pathways
• Carnitine biosynthesis
• Fatty acid metabolism
• Mitochondrial beta-oxidation
Protein Summary
Gamma-butyrobetaine hydroxylase (UniProt O75936) is a 387-amino acid protein that belongs to the 2-oxoglutarate-dependent dioxygenase family. It catalyzes the hydroxylation of gamma-butyrobetaine to L-carnitine. The enzyme is localized in the cytoplasm and is highly expressed in kidney and liver. Structural studies show a conserved double-stranded beta-helix fold and a catalytic triad of histidine residues coordinating iron.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BBOX1 Knockout HEK293 Cell Line | EDJ-KQ3172 | Human | 8424 | Details Get a Quote |
| BBOX1 Knockout HeLa Cell Line | EDJ-KQ54904 | Human | 8424 | Details Get a Quote |
| BBOX1 Knockout A-549 Cell Line | EDJ-KQ63391 | Human | 8424 | Details Get a Quote |
| BBOX1 Knockout HCT 116 Cell Line | EDJ-KQ71859 | Human | 8424 | Details Get a Quote |
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