Rabbit anti-Human FAH Polyclonal Antibody | anti-FAH antibody

FAH, NT (FAH, Fumarylacetoacetase, Beta-diketonase, Fumarylacetoacetate hydrolase) (AP)

Cat. Num. AAA6297658

• Reactivity: Human
• Applications: Immunohistochemistry, ELISA, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: FAH; Polyclonal Antibody; NT (FAH; Fumarylacetoacetase; Beta-diketonase; Fumarylacetoacetate hydrolase) (AP); Fumarylacetoacetate hydrolase; anti-FAH antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Alkaline Phosphatase (AP).

• Applicable Applications for anti-FAH antibody: Immunohistochemistry (IHC), ELISA (EIA), Western Blot (WB)
• Application Notes: IHC: 1:50-100; ELISA: 1:1,000; WB: 1:100-500; Applications are based on unconjugated antibody.
• Immunogen: FAH antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 14-41 amino acids from the N-terminal region of human FAH.
• Conjugate: AP
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(FAH Antibody (N-term) western blot analysis in HepG2 cell line lysates (35ug/lane).This demonstrates the FAH antibody detected the FAH protein (arrow).)

Immunohistochemistry (IHC)

(FAH Antibody (N-term) immunohistochemistry analysis in formalin fixed and paraffin embedded human liver tissue followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of FAH Antibody (N-term) for immunohistochemistry. Clinical relevance has not been evaluated.)

Immunofluorescence (IF)

(Confocal immunofluorescent analysis of FAH Antibody (N-term) with HepG2 cell followed by Alexa Fluor 488-conjugated goat anti-rabbit lgG (green). DAPI was used to stain the cell nuclear (blue).)

Related Product Information for anti-FAH antibody

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).

Product Categories/Family for anti-FAH antibody

Antibodies; Enzymes

References

Joslyn, G., et al. Alcohol. Clin. Exp. Res. 34(5):800-812(2010). Liu, J., et al. Hum Brain Mapp 30(1):241-255(2009). Ferreira, M.A., et al. Nat. Genet. 40(9):1056-1058(2008). Bliksrud, Y.T., et al. J. Mol. Med. 83(5):406-410(2005). Dreumont, N., et al. BMC Mol. Biol. 6 (1), 1 (2005).

NCBI and Uniprot Product Information

• NCBI GI #: 4557587
• NCBI GeneID: 2184
• NCBI Accession #: NP_000128
• NCBI GenBank Nucleotide #: NM_000137
• UniProt Accession #: P16930; Q53XA7; B2R9X1; D3DW95
• Molecular Weight: 38,614 Da
• NCBI Official Full Name: fumarylacetoacetase
• NCBI Official Synonym Full Names: fumarylacetoacetate hydrolase (fumarylacetoacetase)
• NCBI Official Symbol: FAH
• NCBI Protein Information: fumarylacetoacetase; FAA; beta-diketonase
• UniProt Protein Name: Fumarylacetoacetase
• Protein Family: Fumarylacetoacetase
• UniProt Gene Name: FAH
• UniProt Synonym Gene Names: FAA
• UniProt Entry Name: FAAA_HUMAN

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