| Fumarylacetoacetase ELISA Kit|
|Also known as Fumarylacetoacetase (FAA) (Beta-diketonase) (Fumarylacetoacetate hydrolase). |
FAH: Defects in FAH are the cause of tyrosinemia type 1 (TYRO1). An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures.
Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the 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. Belongs to the FAH family.
Protein type: Amino Acid Metabolism - tyrosine; EC 126.96.36.199; Hydrolase
Chromosomal Location of Human Ortholog: 15q25.1
Cellular Component: cytosol
Molecular Function: fumarylacetoacetase activity; protein binding
Biological Process: L-phenylalanine catabolic process
Disease: Tyrosinemia, Type I
| FAH ELISA Kit|