Aliases for ADHFE1 Gene
External Ids for ADHFE1 Gene
Previous GeneCards Identifiers for ADHFE1 Gene
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 22.214.171.124), 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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.