HADH (Hydroxyacyl-CoA Dehydrogenase) Gene
Key Enzyme in Mitochondrial Fatty Acid Beta-Oxidation
Gene Information Card
| Symbol | HADH |
|---|---|
| Full Name | Hydroxyacyl-CoA Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 3033 ncbi.nlm.nih.gov/gene/3033 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q16836 |
| OMIM ID | 601609 |
| HGNC ID | 4801 |
| Aliases | HADHSC, SCHAD, HADH1 |
Description
The HADH gene encodes the short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), a mitochondrial enzyme involved in the beta-oxidation of fatty acids. It catalyzes the conversion of 3-hydroxyacyl-CoA to 3-ketoacyl-CoA, a key step in energy production from fatty acids. Mutations in HADH cause HADH deficiency, leading to hyperinsulinemic hypoglycemia and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperinsulinemic Hypoglycemia, Familial, 4 | Loss of SCHAD enzyme activity impairs fatty acid oxidation, leading to inappropriate insulin secretion | ClinVar, OMIM |
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | Deficient enzyme disrupts beta-oxidation, causing hypoglycemia, hepatomegaly, and metabolic acidosis | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Heart | 8.9 | Medium |
| Skeletal Muscle | 7.1 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| K562 | 6.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.636G>A (p.Trp212*) | Nonsense | Rare | Loss of function |
| c.773C>T (p.Pro258Leu) | Missense | Rare | Reduced enzyme activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most HADH mutations are loss-of-function, reducing or abolishing SCHAD enzyme activity, leading to impaired fatty acid oxidation and hypoglycemia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 3-hydroxyacyl-CoA dehydrogenase activity | • mitochondrial matrix |
| • fatty acid beta-oxidation | • NAD binding |
Pathways
• Fatty acid beta-oxidation (mitochondrial)
• Metabolic pathways
Protein Summary
The HADH protein (SCHAD) is a 34 kDa mitochondrial enzyme that catalyzes the third step of fatty acid beta-oxidation. It is a homodimer that uses NAD+ as a cofactor. Deficiency leads to accumulation of 3-hydroxyacyl-CoAs and metabolic crisis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HADHA Knockout HEK293 Cell Line | EDJ-KQ2238 | Human | 3030 | Details Get a Quote |
| EHHADH Knockout HEK293 Cell Line | EDJ-KQ4507 | Human | 1962 | Details Get a Quote |
| HADHB Knockout HEK293 Cell Line | EDJ-KQ4838 | Human | 3032 | Details Get a Quote |
| HADH Knockout HEK293 Cell Line | EDJ-KQ4839 | Human | 3033 | Details Get a Quote |
| EHHADH Knockout A-549 Cell Line | EDJ-KQ27111 | Human | 1962 | Details Get a Quote |
| EHHADH Knockout HCT 116 Cell Line | EDJ-KQ27112 | Human | 1962 | Details Get a Quote |
| EHHADH Knockout HeLa Cell Line | EDJ-KQ27113 | Human | 1962 | Details Get a Quote |
| HADHA Knockout A-549 Cell Line | EDJ-KQ22530 | Human | 3030 | Details Get a Quote |
| HADHA Knockout HCT 116 Cell Line | EDJ-KQ22531 | Human | 3030 | Details Get a Quote |
| HADHA Knockout HeLa Cell Line | EDJ-KQ22532 | Human | 3030 | Details Get a Quote |
| HADH Knockout HCT 116 Cell Line | EDJ-KQ26404 | Human | 3033 | Details Get a Quote |
| HADHB Knockout A-549 Cell Line | EDJ-KQ27617 | Human | 3032 | Details Get a Quote |
| HADHB Knockout HCT 116 Cell Line | EDJ-KQ27618 | Human | 3032 | Details Get a Quote |
| HADHB Knockout HeLa Cell Line | EDJ-KQ27619 | Human | 3032 | Details Get a Quote |
| HADH Knockout A-549 Cell Line | EDJ-KQ27620 | Human | 3033 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
