HIBCH Gene Summary [Human]
This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | HIBCH |
| Official Name | 3-hydroxyisobutyryl-CoA hydrolase [Source:HGNC Symbol;Acc:HGNC:4908] |
| Ensembl ID | ENSG00000198130 |
| Bio databases IDs | |
| Aliases | 3-hydroxyisobutyryl-CoA hydrolase |
| Synonyms | 2610509I15RIK, 3-hydroxyisobutyryl-CoA hydrolase, 3-hydroxyisobutyryl-Coenzyme A hydrolase, HIBYL-COA-H |
| 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 HIBCH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- crotonase-like
- 3-hydroxyisobutyryl-CoA hydrolase
- enzyme
- Enoyl-CoA hydratase/isomerase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- renal cancer
- beta-hydroxyisobutyryl-coa deacylase deficiency
- hepatocellular carcinoma
- neurodegeneration
- hereditary disorder
- peripheral arterial disease
- Leigh syndrome
- systemic lupus erythematosus
role in cell
- expression in
- mitochondrial respiration in
- generation in
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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HIBCH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- branched chain family amino acid catabolic process
- valine catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- 3-hydroxyisobutyryl-CoA hydrolase activity
- hydrolase activity