HADH

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]

Hydroxyacyl-CoA Dehydrogenase

Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361).

Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity).

Fatty acid beta-oxidation Source: UniProtKB
Negative regulation of insulin secretion Source: Ensembl
Positive regulation of cold-induced thermogenesis Source: YuBioLab
Regulation of insulin secretion Source: UniProtKB
Response to activity Source: Ensembl
Response to insulin Source: Ensembl
Response to xenobiotic stimulus Source: Ensembl

Mitochondrion matrix

3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency):
An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.
Familial hyperinsulinemic hypoglycemia 4 (HHF4):
Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion.

Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5.