Fumarylacetoacetase is a 419aa protein encoded by the human gene FAH.
Fumarylacetoacetase catalyzes the hydrolysis of 4-fumarylacetoacetate, an intermediate in the metabolism of tyrosine, into acetoacetate and fumarate.
Defects in FAH are the cause of tyrosinemia type I.
It is an autosomal recessive inborn error of metabolism that occurs in both an acute and a chronic form.
Clinical characteristics of the acute form include hepatic failure and death in infancy, whereas children with the chronic form have renal tubular dysfunction and hypophosphatemic rickets, progressive liver disease with development of hepatocellular carcinoma.
Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.
Tyrosinemia type I is a rare condition, except in the Saguenay-lac-St-Jean region (province of Quebec, Canada) where the frequency is 1/1846 newborns as the result of a founder effect.
Applications:Suitable for use in ELISA 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.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：50ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.3, 0.09% sodium azide, 50% glycerol.
Specificity：Recognizes human FAH. Species Crossreactivity: mouse and rat
