HADH Gene Summary [Human]
This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | HADH |
| Official Name | hydroxyacyl-CoA dehydrogenase [Source:HGNC Symbol;Acc:HGNC:4799] |
| Ensembl ID | ENSG00000138796 |
| Bio databases IDs | |
| Aliases | hydroxyacyl-CoA dehydrogenase |
| Synonyms | 3-Hydroxyacyl-CoA Dehydrogenase, 3 Hydroxyacyl Coenzyme A Dehydrogenase, Beta-3 Hydroxyacyl Coenzyme A Dehydrogenase, HAD, HADH1, HADHSC, HCDH, HHF4, hydroxyacyl-CoA dehydrogenase, hydroxyacyl-Coenzyme A dehydrogenase, MSCHAD, SCHAD, β-3 Hydroxyacyl Coenzyme A Dehydrogenase |
| 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 HADH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
- NAD or NADH binding
- 3-hydroxyacyl-CoA dehydrogenase
- binding protein
- enzyme
- protein binding
- AdoMet_MTases
- 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
- identical protein binding
Pathways
Biological processes and signaling networks where the HADH gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- deficiency of 3-hydroxyacyl-coa dehydrogenase
- liver cancer
- epithelial cancer
- familial hyperinsulinemic hypoglycemia type 4
- rotator cuff injury
- hyperinsulinemic hypoglycemia
- hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- bipolar disorder
- Huntington disease
role in cell
- accumulation
- apoptosis
- quantity
- motility
- meiosis
- abnormality
- abnormal morphology
- integrity
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
- cellular membrane
- Mitochondria
- mitochondrial matrix
- nucleoplasm
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HADH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of insulin secretion
- fatty acid beta-oxidation
- response to insulin stimulus
- response to xenobiotic stimulus
- response to activity
- negative regulation of insulin secretion
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- cytoplasm
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- 3-hydroxyacyl-CoA dehydrogenase activity
- transferase activity
- NAD+ binding