84-1236-16　HADHB (Trifunctional Enzyme Subunit beta, Mitochondrial, TP-beta, MSTP029) (FITC) 100ug　029181

特徴

• 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 FLISA and Western Blot.
• Other applications not tested.
• Recommended Dilution:Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• For long-term storage and to avoid repeated freezing and thawing, aliquot and store at -20°C.
• Aliquots are stable for 12 months at -20°C.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
• Further dilutions can be made in assay buffer.
• FITC conjugates are sensitive to light.