MyBioSource.com's Rabbit Anti-Trifunctional Enzyme Subunit beta Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Other. The Rabbit Anti-Trifunctional Enzyme Subunit beta Antibody was generated using HADHB as the antigen and it reacts with Human.
Description
Defects 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