Human fumarylacetoacetate hydrolase (fumarylacetoacetase) ELISA Kit | FAH elisa kit
Human Fumarylacetoacetase, FAH ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
Uniprot Description
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 3.7.1.2; Hydrolase
Chromosomal Location of Human Ortholog: 15q25.1
Cellular Component: cytosol
Molecular Function: fumarylacetoacetase activity; metal ion binding
Biological Process: L-phenylalanine catabolic process; tyrosine catabolic process; arginine catabolic process
Disease: Tyrosinemia, Type I
Research Articles on FAH
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Product Notes
The Human FAH fah (Catalog #AAA9332637) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9332637 ELISA Kit recognizes Human FAH. It is sometimes possible for the material contained within the vial of "fumarylacetoacetate hydrolase (fumarylacetoacetase), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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