Mouse Anti-FAH Recombinant Antibody (3G2) (CBMAB-F2280-CQ)

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Basic Information

Host Animal
Mouse
Clone
3G2
Application
ELISA
Immunogen
FAH (aa 1-70) partial recombinant protein.
Host Species
Mouse
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal Antibody
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS
Preservative
None
Concentration
Batch dependent
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.
More Infomation

Target

Full Name
fumarylacetoacetate hydrolase (fumarylacetoacetase)
Introduction
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
Entrez Gene ID
UniProt ID
Alternative Names
Fumarylacetoacetate Hydrolase; Fumarylacetoacetase; Beta-Diketonase; EC 3.7.1.2; FAA; Fumarylacetoacetate Hydrolase (Fumarylacetoacetase);
Research Area
Arginine catabolic process Source: Ensembl
Homogentisate catabolic process Source: GO_Central
L-phenylalanine catabolic process Source: GO_Central
Tyrosine catabolic process Source: GO_Central
Cellular Location
Cytosol; Extracellular exosome
Involvement in disease
Tyrosinemia 1 (TYRSN1):
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.

Sikonja, J., Brecelj, J., Tansek, M. Z., Lampret, B. R., Torkar, A. D., Klemencic, S., ... & Groselj, U. (2022). Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia–A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant. Molecular Genetics and Metabolism Reports, 30, 100836.

Hu, C., Huang, L., Chen, Y., Liu, J., Wang, Z., Gao, B., ... & Ren, C. (2021). Fumarylacetoacetate hydrolase is required for fertility in rice. Planta, 253(6), 1-9.

Larson, E. L., Joo, D. J., Nelson, E. D., Amiot, B. P., Aravalli, R. N., & Nyberg, S. L. (2021). Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production. Stem Cell Reports, 16(11), 2577-2588.

Weiss, A. K., Albertini, E., Holzknecht, M., Cappuccio, E., Dorigatti, I., Krahbichler, A., ... & Jansen-Dürr, P. (2020). Regulation of cellular senescence by eukaryotic members of the FAH superfamily–A role in calcium homeostasis?. Mechanisms of ageing and development, 190, 111284.

Zhou, Z., Zhi, T., Han, C., Peng, Z., Wang, R., Tong, J., ... & Ren, C. (2020). Cell death resulted from loss of fumarylacetoacetate hydrolase in Arabidopsis is related to phytohormone jasmonate but not salicylic acid. Scientific Reports, 10(1), 1-11.

Macias, I., Laín, A., Bernardo-Seisdedos, G., Gil, D., Gonzalez, E., Falcon-Perez, J. M., & Millet, O. (2019). Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate. Journal of Biological Chemistry, 294(35), 13051-13060.

Zhi, T., Zhou, Z., Qiu, B., Zhu, Q., Xiong, X., & Ren, C. (2019). Loss of fumarylacetoacetate hydrolase causes light‐dependent increases in protochlorophyllide and cell death in Arabidopsis. The Plant Journal, 98(4), 622-638.

Weiss, A. K., Loeffler, J. R., Liedl, K. R., Gstach, H., & Jansen-Dürr, P. (2018). The fumarylacetoacetate hydrolase (FAH) superfamily of enzymes: multifunctional enzymes from microbes to mitochondria. Biochemical Society Transactions, 46(2), 295-309.

Cheng, Q., Wei, T., Jia, Y., Farbiak, L., Zhou, K., Zhang, S., ... & Siegwart, D. J. (2018). Dendrimer‐based lipid nanoparticles deliver therapeutic FAH mRNA to normalize liver function and extend survival in a mouse model of hepatorenal tyrosinemia type I. Advanced Materials, 30(52), 1805308.

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For research use only. Not intended for any clinical use.

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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