BBOX1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | BBOX1 |
| Official Name | gamma-butyrobetaine hydroxylase 1 [Source:HGNC Symbol;Acc:HGNC:964] |
| Ensembl ID | ENSG00000129151 |
| Bio databases IDs | |
| Aliases | gamma-butyrobetaine hydroxylase 1 |
| Synonyms | BBH, BBOX, gamma-BBH, gamma-butyrobetaine hydroxylase 1, G-BBH, γ-BBH, γ-butyrobetaine hydroxylase 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BBOX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- trimethyllysine dioxygenase
- enzyme
- gamma-butyrobetaine hydroxylase
- protein binding
- identical protein binding
- Gamma-butyrobetaine hydroxylase-like, N-terminal
- CAS_like
- gamma-butyrobetaine dioxygenase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- epithelial cancer
- liver cancer
- hepatocellular carcinoma
- Huntington disease
- Wilms tumor
- Wilms tumorigenesis
- diabetic nephropathy
- hepatitis B virus-related hepatocellular carcinoma
- breast carcinoma
role in cell
- sphere formation by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BBOX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carnitine biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- identical protein binding
- protein binding
- iron ion binding
- gamma-butyrobetaine dioxygenase activity