raised against amino acids 233-274 mapping within an internal region of Fumarylacetoacetase of human origin
recommended for detection of Fumarylacetoacetase of mouse, rat and human origin by WB, IP, IF and ELISA; also reactive with additional species, including equine, canine and porcine
Fumarylacetoacetase Background Information Fumarylacetoacetase is a 419 amino acid 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 1/1,846 newborns as the result of a founder effect.
Fumarylacetoacetase (H-42)
클릭하시면 확대된 이미지를 보실 수 있습니다.
Fumarylacetoacetase (H-42): sc-67288. Western blot analysis of Fumarylacetoacetase expression in mouse liver (A) and mouse kidney (B) tissue extracts.
