HADH Antibody – Rabbit Polyclonal

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]

HADHSC: Plays an essential role in the mitochondrial beta- oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA. Defects in HADH are the cause of 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency). HADH deficiency is a metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. Defects in HADH are the cause of familial hyperinsulinemic hypoglycemia type 4 (HHF4); also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyperinsulinism. HHF is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. 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. Belongs to the 3-hydroxyacyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - lysine degradation; Lipid Metabolism - fatty acid elongation in mitochondria; Carbohydrate Metabolism - butanoate; Oxidoreductase; Lipid Metabolism - fatty acid; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Amino Acid Metabolism - tryptophan; EC 1.1.1.35

Chromosomal Location of Human Ortholog: 4q22-q26

Cellular Component: nucleoplasm; mitochondrion; mitochondrial matrix; mitochondrial inner membrane; cytoplasm

Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity

Biological Process: response to drug; fatty acid beta-oxidation; response to activity; cellular lipid metabolic process; negative regulation of insulin secretion; response to insulin stimulus

Disease: 3-hydroxyacyl-coa Dehydrogenase Deficiency; Hyperinsulinemic Hypoglycemia, Familial, 4