HADHB Anticuerpo(E-1): sc-271495

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HADHB (Trifunctional enzyme subunit beta (mitochondrial), Acetyl-CoA acyltransferase) is a 474 amino acid protein encoded by the human gene HADHB. HADHB belong to the thiolase family, which are ubiquitous enzymes that catalyze the reversible thiolytic cleavage of 3-ketoacyl-CoA into acyl-CoA and acetyl-CoA, a 2-step reaction involving a covalent intermediate formed with a catalytic cysteine. HADHB is found in the mitochondrion as an octamer of 4 a (HADHA) and 4 b (HADHB) subunits. 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.