ECI2 enoyl-CoA delta isomerase 2
Gene ID: 10455, updated on 2-Nov-2024Gene type: protein coding
Also known as: DRS1; PECI; ACBD2; DRS-1; HCA88; dJ1013A10.3
- See all available tests in GTR for this gene
- Go to complete Gene record for ECI2
- Go to Variation Viewer for ECI2 variants
Summary
This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 6p25.2
- Sequence:
- Chromosome: 6; NC_000006.12 (4115706..4135575, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ECI2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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