BackgroundDefects in HADHB are a cause of trifunctional protein deficiency (TFP deficiency) [MIM:609015]. 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.
DescriptionHADHB Polyclonal Antibody, HRP Conjugated. HRP. Raised in: Rabbit.
FormulationLiquid. 0.03% Proclin 300, 50% Glycerol, 0.01M PBS, PH 7.4.
SpecificityHuman
IsotypeIgG
Uniprot IDP55084
Purification>95%, Protein G purified
ImmunogenRecombinant Human Trifunctional enzyme subunit beta, mitochondrial protein (35-283AA)
StorageShipped at 4°C. Upon delivery aliquot and store at -20°C (short-term) or -80°C (long-term). Avoid repeated freeze.
ApplicationELISA; Recommended dilution: ELISA 1:500-1:1000