EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Gene ID: 1962, updated on 8-Apr-2024Gene type: protein coding
Also known as: LBP; ECHD; LBFP; MFE1; PBFE; FRTS3; L-PBE
- See all available tests in GTR for this gene
- Go to complete Gene record for EHHADH
- Go to Variation Viewer for EHHADH variants
Summary
The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. GeneReviews: Not available | |
| Fanconi renotubular syndrome 3 | See labs |
| Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned. GeneReviews: Not available |
Genomic context
- Location:
- 3q27.2
- Sequence:
- Chromosome: 3; NC_000003.12 (185190624..185254049, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EHHADH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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