Aliases for HADH Gene
External Ids for HADH Gene
Previous HGNC Symbols for HADH Gene
Previous GeneCards Identifiers for HADH Gene
This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
GeneCards Summary for HADH Gene
HADH (Hydroxyacyl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with HADH include 3-Hydroxyacyl-Coa Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia, Familial, 4. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. GO annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is HADHA.
UniProtKB/Swiss-Prot for HADH Gene
Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.