Gene Symbol | HADH |
Entrez Gene ID | 3033 |
Full Name | hydroxyacyl-CoA dehydrogenase |
Synonyms | HAD,HADH1,HADHSC,HCDH,HHF4,MSCHAD,SCHAD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3); Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3) |