TECR trans-2,3-enoyl-CoA reductase
Gene ID: 9524, updated on 6-Jun-2024Gene type: protein coding
Also known as: SC2; TER; GPSN2; MRT14
- See all available tests in GTR for this gene
- Go to complete Gene record for TECR
- Go to Variation Viewer for TECR variants
Summary
This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Intellectual disability, autosomal recessive 14 | See labs |
Genomic context
- Location:
- 19p13.12
- Sequence:
- Chromosome: 19; NC_000019.10 (14527726..14565980)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TECR 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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