ECHDC1
Enoyl-CoA Hydratase Domain Containing 1
Gene Information Card
| Symbol | ECHDC1 |
|---|---|
| Full Name | Enoyl-CoA Hydratase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 55862 ncbi.nlm.nih.gov/gene/55862 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9NTX5 |
| OMIM ID | 615696 |
| HGNC ID | 25511 |
| Aliases | ECHDC1, FLJ10769, MGC13170 |
Description
ECHDC1 encodes a protein containing an enoyl-CoA hydratase domain, likely involved in mitochondrial fatty acid beta-oxidation or related metabolic pathways. The gene is located on chromosome 6q22.31 and is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Low |
| Brain | 5.2 | Low |
| Testis | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| HEK 293 | 8.2 | Embryonic kidney cells |
| K562 | 6.0 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • enoyl-CoA hydratase activity | • mitochondrion |
| • fatty acid beta-oxidation |
Pathways
• Fatty acid degradation
• Metabolic pathways
Protein Summary
ECHDC1 is a 303-amino acid protein with an enoyl-CoA hydratase domain, predicted to localize to mitochondria and participate in fatty acid metabolism. Its exact biochemical function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECHDC1 Knockout HEK293 Cell Line | EDJ-KQ11945 | Human | 55862 | Details Get a Quote |
| ECHDC1 Knockout A-549 Cell Line | EDJ-KQ40459 | Human | 55862 | Details Get a Quote |
| ECHDC1 Knockout HCT 116 Cell Line | EDJ-KQ40460 | Human | 55862 | Details Get a Quote |
| ECHDC1 Knockout HeLa Cell Line | EDJ-KQ40461 | Human | 55862 | Details Get a Quote |
