EHHADH
Enoyl-CoA Hydratase and 3-Hydroxyacyl CoA Dehydrogenase
Gene Information Card
| Symbol | EHHADH |
|---|---|
| Full Name | Enoyl-CoA Hydratase and 3-Hydroxyacyl CoA Dehydrogenase |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.2 |
| NCBI Gene ID | 1962 ncbi.nlm.nih.gov/gene/1962 |
| Ensembl ID | ENSG00000114790 |
| UniProt ID | Q08426 |
| OMIM ID | 607037 |
| HGNC ID | 3247 |
| Aliases | L-PBE, LBP, PBFE, EHHADH1 |
Description
The EHHADH gene encodes enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase, a bifunctional enzyme involved in peroxisomal beta-oxidation of fatty acids. It catalyzes the second and third steps of the pathway, converting enoyl-CoA to 3-ketoacyl-CoA. Mutations in EHHADH are associated with peroxisomal disorders, including Zellweger syndrome spectrum and L-bifunctional protein deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisomal bifunctional enzyme deficiency | Loss of EHHADH function disrupts peroxisomal beta-oxidation, leading to accumulation of very long-chain fatty acids and bile acid intermediates. | ClinVar, OMIM |
| Zellweger syndrome spectrum | Defects in peroxisomal beta-oxidation due to EHHADH mutations contribute to the severe neurological and hepatic phenotype. | OMIM, NCBI Gene |
| Primary hyperoxaluria type 1 | Rare association; EHHADH dysfunction may alter glyoxylate metabolism. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Heart | 4.7 | Medium |
| Brain | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK 293 | 5.8 | Embryonic kidney |
| HeLa | 3.4 | Cervical cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.293A>G (p.Asn98Ser) | Missense | <0.01% | Reduced enzyme activity; associated with peroxisomal disorder |
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; truncation |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most EHHADH mutations are loss-of-function, leading to peroxisomal bifunctional enzyme deficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • enoyl-CoA hydratase activity | • 3-hydroxyacyl-CoA dehydrogenase activity |
| • peroxisome | • fatty acid beta-oxidation |
| • very long-chain fatty acid metabolic process |
Pathways
• Peroxisomal beta-oxidation
• Fatty acid degradation
Protein Summary
EHHADH encodes a bifunctional peroxisomal enzyme with enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase activities. It is essential for the beta-oxidation of very long-chain fatty acids and bile acid intermediates. The protein localizes to peroxisomes and is highly expressed in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EHHADH Knockout HEK293 Cell Line | EDJ-KQ4507 | Human | 1962 | 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 |
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