FAH, Polyclonal Antibody

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

Polyclonal

Rabbit

Affinity purified

Liquid

100ug/100ul (lot specific)

This product is stable for several weeks at 4 degree C as an undiluted liquid. Dilute only prior to immediate use. For extended storage, aliquot contents and freeze at -20 degree C or below. Avoid cycles of freezing and thawing. Expiration date is one (1) year from date of receipt.

Small volumes of anti-FAH 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.

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]

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

ELISA titer: 1:20,000-1:80,000
Western blot analysis: 1:1,000-1:2,000
Immunohistochemistry: 1:100-1:500
Optimal dilutions/concentrations should be determined by the end user.

38,614 Da

fumarylacetoacetate hydrolase (fumarylacetoacetase)

fumarylacetoacetase; FAA; beta-diketonase

Fumarylacetoacetase

FAAA_HUMAN

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]

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

(1) Imtiaz,F., Rashed,M.S., Al-Mubarak,B., et al. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. Mol. Genet. Metab. 104 (4), 688-690 (2011).

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