Mouse anti-Human sapiens (Human) HADH Monoclonal Antibody

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)

Subcellular Location

Mitochondrion matrix

Disease Association

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. [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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in liver, kidney, pancreas, heart and skeletal muscle

Subunit

Homodimer (PubMed:10231530, PubMed:10840044, PubMed:16725361). Interacts with GLUD1; this interaction inhibits the activation of glutamate dehydrogenase 1 (GLUD1) (By similarity)

Pathway

Lipid metabolism; fatty acid beta-oxidation

• Vredendaal P.J.C.M. et al. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. — Biochem. Biophys. Res. Commun. (1996)
• Shi Y. et al. Cloning of a L-3-hydroxyacyl CoA dehydrogenase that binds to GLUT4 glucose transporter cytoplasmic C-terminus: possible crosstalk between glucose transport and fatty acid metabolism. (NOV-)
• O'Brien L.K. et al. Human short chain L-3-hydroxyacyl-CoA dehydrogenase. (SEP-)
• Hillier L.W. et al. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. — Nature (2005)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Choudhary C. et al. Lysine acetylation targets protein complexes and co-regulates major cellular functions. — Science (2009)
• Burkard T.R. et al. Initial characterization of the human central proteome. — BMC Syst. Biol. (2011)
• Bian Y. et al. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. — J. Proteomics (2014)