Aliases for ADHFE1 Gene
External Ids for ADHFE1 Gene
Previous GeneCards Identifiers for ADHFE1 Gene
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 220.127.116.11), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
GeneCards Summary for ADHFE1 Gene
ADHFE1 (Alcohol Dehydrogenase Iron Containing 1) is a Protein Coding gene. Diseases associated with ADHFE1 include D-2-Hydroxyglutaric Aciduria 1 and Hypotropia. Among its related pathways are Pyruvate metabolism and Citric Acid (TCA) cycle and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and hydroxyacid-oxoacid transhydrogenase activity. An important paralog of this gene is ENSG00000285791.
UniProtKB/Swiss-Prot Summary for ADHFE1 Gene
Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities.