TFP1/HADHA, Polyclonal Antibody

Mitochondrial Trifunctional Protein

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

Affinity purified

100 ug (0.5 mg/ml) affinity purified rabbit polyclonal antibody in 1X phosphate-buffered saline (PBS) containing 30% glycerol, 0.5% BSA, and 0.01% thimerosal.
Appearance: Colorless liquid

0.5 mg/ml (lot specific)

At -20 degree C
Shelf Life: 12 months

Small volumes of anti-TFP1/HADHA antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Background: Mitochondrial Trifunctional Protein (TFP) is a multienzyme complex of the beta-oxidation cycle. TFP deficiency is a clinically heterogeneous disorder with phenotypes of different severity. The spectrum of diseases range from severe neonatal/infantile cardiomyopathy and early death to mild chronic progressive sensorimotor poly-neuropathy with episodic rhabdomyolysis. Human TFP is an octomer composed of four alpha-subunits and four beta-subunits. Mutations in either subunits may result in general TFP deficiency with reduced activity of all enzymes.

Western Blot (WB)

Western blotting (0.5-4 ug/ml). However, the optimal concentrations should be determined individually. The antibody recognizes 84 kDa TFP1 from samples of human, mouse and rat origins. Reactivity to other species has not been tested.

28,367 Da

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit

trifunctional enzyme subunit alpha, mitochondrial

Trifunctional enzyme subunit alpha, mitochondrial

HADH  [Similar Products]

ECHA_HUMAN

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]

HADHA: Bifunctional subunit. Defects in HADHA 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 enzyme activities of the TFP complex. Defects in HADHA are the cause of long-chain 3-hydroxyl- CoA dehydrogenase deficiency (LCHAD deficiency). The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long- chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. Defects in HADHA are a cause of maternal acute fatty liver of pregnancy (AFLP). AFLP is a severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).

Protein type: EC 1.1.1.211; Amino Acid Metabolism - lysine degradation; Amino Acid Metabolism - tryptophan; Lipid Metabolism - fatty acid elongation in mitochondria; Acetyltransferase; Lipid Metabolism - fatty acid; Mitochondrial; Other Amino Acids Metabolism - beta-alanine; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Lyase; EC 4.2.1.17; Secondary Metabolites Metabolism - limonene and pinene degradation; Lipid Metabolism - unsaturated fatty acid biosynthesis; Carbohydrate Metabolism - butanoate; Oxidoreductase

Chromosomal Location of Human Ortholog: 2p23

Cellular Component: mitochondrion; mitochondrial inner membrane; fatty acid beta-oxidation multienzyme complex

Molecular Function: protein binding; acetyl-CoA C-acetyltransferase activity; acyl-CoA binding; enoyl-CoA hydratase activity; long-chain-3-hydroxyacyl-CoA dehydrogenase activity; protein complex binding; long-chain-enoyl-CoA hydratase activity; NAD binding; 3-hydroxyacyl-CoA dehydrogenase activity

Biological Process: response to drug; fatty acid beta-oxidation; phospholipid metabolic process; glycerophospholipid biosynthetic process; cellular lipid metabolic process; response to insulin stimulus

Disease: Trifunctional Protein Deficiency; Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency

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