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 hyperinsulinemic hypoglycemia, familial, 4 and 3-hydroxyacyl-coa dehydrogenase deficiency. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is EHHADH.
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.