ECHS1 enoyl-CoA hydratase, short chain 1
Gene ID: 1892, updated on 5-Mar-2024Gene type: protein coding
Also known as: SCEH; mECH; mECH1; ECHS1D
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- Go to complete Gene record for ECHS1
- Go to Variation Viewer for ECHS1 variants
Summary
The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 10q26.3
- Sequence:
- Chromosome: 10; NC_000010.11 (133362485..133373354, complement)
- Total number of exons:
- 8
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for ECHS1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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