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SCHAD / HADHSC 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.
Gene Name: | hydroxyacyl-CoA dehydrogenase |
Synonyms: | HADH, HAD, HADH1, HCDH, HHF4, SCHAD, HADHSC, Hydroxyacyl-CoA dehydrogenase, MSCHAD |
Target Sequences: | NM_005327 NP_005318.3 Q16836 |
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