ECHDC3
Enoyl-CoA Hydratase Domain Containing 3
Gene Information Card
| Symbol | ECHDC3 |
|---|---|
| Full Name | Enoyl-CoA Hydratase Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 79746 ncbi.nlm.nih.gov/gene/79746 |
| Ensembl ID | ENSG00000120054 |
| UniProt ID | Q96DC8 |
| OMIM ID | 617413 |
| HGNC ID | 28181 |
| Aliases | FLJ22662, MGC13170 |
Description
ECHDC3 encodes a protein containing an enoyl-CoA hydratase domain, involved in fatty acid metabolism. The protein localizes to mitochondria and may function in the beta-oxidation pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | Potential role in fatty acid oxidation; ECHDC3 variants may affect enzyme activity | Limited; inferred from homology and pathway analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Kidney | 8.9 | Low |
| Skeletal Muscle | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| K-562 | 6.8 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants documented.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • enoyl-CoA hydratase activity | • mitochondrion |
| • fatty acid beta-oxidation |
Pathways
• Fatty acid degradation
• Metabolic pathways
Protein Summary
ECHDC3 is a mitochondrial protein with enoyl-CoA hydratase domain, likely involved in the beta-oxidation of fatty acids. Its exact substrate specificity remains to be fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECHDC3 Knockout HEK293 Cell Line | EDJ-KQ12472 | Human | 79746 | Details Get a Quote |
| ECHDC3 Knockout A-549 Cell Line | EDJ-KQ42651 | Human | 79746 | Details Get a Quote |
| ECHDC3 Knockout HCT 116 Cell Line | EDJ-KQ42652 | Human | 79746 | Details Get a Quote |
| ECHDC3 Knockout HeLa Cell Line | EDJ-KQ42653 | Human | 79746 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
