HADHB (Trifunctional Enzyme Subunit beta, Mitochondrial, TP-beta, MSTP029) (Biotin)

Size

£544.00

SKU:: 029180
Purity:: Purified by Protein G affinity chromatography.
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Rabbit
Immunogen:: Recombinant corresponding to aa35-283 from human HADHB.
Format:: Supplied as a liquid in 0.01M PBS, pH 7.4, 0.03% Proclin 300, 50% glycerol. Labeled with Biotin.
Extra Details:: 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. Applications: Suitable for use in ELISA. Other applications not tested. Recommended Dilution: Optimal dilutions to be determined by the researcher. Storage and Stability: Store product at 4°C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20°C. Aliquots are stable at -20°C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.