HADH
Function
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). Plays a role in the maintenance of normal spermatogenesis through the reduction of fatty acid accumulation in the testes (By similarity).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Hyperinsulinemic hypoglycemia, familial, 4
HHF4
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF4 clinical features include hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF4 inheritance is autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; fatty acid beta-oxidation.
Post-translational modifications
Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5.
Sequence Similarities
Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
Tissue Specificity
Expressed in liver, kidney, pancreas, heart and skeletal muscle.
Cellular localization
- Mitochondrion matrix
Alternative names
HAD, HAD1, HADHSC, SCHAD, HADH, HCDH, Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase, Short-chain 3-hydroxyacyl-CoA dehydrogenase