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Mouse Anti-FAH Recombinant Antibody (CBXF-3460) (CBMAB-F1040-CQ)

This product is a mouse antibody that recognizes FAH. The antibody CBXF-3460 can be used for immunoassay techniques such as: WB, ELISA.
See all FAH antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXF-3460
Antibody Isotype
IgG2b
Application
WB, ELISA

Basic Information

Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal
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
Concentration
1 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

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
2184
UniProt ID
P16930
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.

Custom Antibody Labeling

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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