HADHB Antibody – Rabbit Polyclonal

This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

HADHB: Defects in HADHB are a cause of trifunctional protein deficiency (TFP deficiency). The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all three enzyme activities of the TFP complex. Belongs to the thiolase family.

Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 2.3.1.16; Lipid Metabolism - fatty acid; Lipid Metabolism - fatty acid elongation in mitochondria; Transferase

Chromosomal Location of Human Ortholog: 2p23.3

Cellular Component: endoplasmic reticulum; mitochondrial envelope; mitochondrial inner membrane; mitochondrial outer membrane

Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; enoyl-CoA hydratase activity; protein binding

Biological Process: fatty acid beta-oxidation

Disease: Trifunctional Protein Deficiency