Identity
HGNC
LOCATION
3q27.2
LOCUSID
ALIAS
ECHD,FRTS3,L-PBE,LBFP,LBP,MFE1,PBFE
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1962
MIM: 607037
HGNC: 3247
Ensembl: ENSG00000113790
Variants:
dbSNP: 1962
ClinVar: 1962
TCGA: ENSG00000113790
COSMIC: EHHADH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000113790 | ENST00000231887 | Q08426 |
| ENSG00000113790 | ENST00000440662 | C9JJE0 |
| ENSG00000113790 | ENST00000456310 | Q08426 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37313808 | 2023 | [EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis]. | 1 |
| 37313808 | 2023 | [EHHADH is a key gene in fatty acid metabolism pathways in hepatocellular carcinoma: a transcriptomic analysis]. | 1 |
| 33430801 | 2021 | EHHADH contributes to cisplatin resistance through regulation by tumor-suppressive microRNAs in bladder cancer. | 17 |
| 33430801 | 2021 | EHHADH contributes to cisplatin resistance through regulation by tumor-suppressive microRNAs in bladder cancer. | 17 |
| 24401050 | 2014 | Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. | 49 |
| 24401050 | 2014 | Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. | 49 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19240061 | 2009 | Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. | 94 |
| 19240061 | 2009 | Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. | 94 |
| 18660489 | 2008 | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. | 29 |
| 18660489 | 2008 | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. | 29 |
Citation
Dessen P
EHHADH (enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54278/ehhadh-(enoyl-coa-hydratase-and-3-hydroxyacyl-coa-dehydrogenase)
