ADHFE1 alcohol dehydrogenase iron containing 1
Gene ID: 137872, updated on 2-Nov-2024Gene type: protein coding
Also known as: HOT; ADH8; HMFT2263
- See all available tests in GTR for this gene
- Go to complete Gene record for ADHFE1
- Go to Variation Viewer for ADHFE1 variants
Summary
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
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 |
Genomic context
- Location:
- 8q13.1
- Sequence:
- Chromosome: 8; NC_000008.11 (66432504..66468907)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADHFE1 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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