Sign in or Register   Sign in or Register
  |  

Mouse Anti-PAH Recombinant Antibody (717CT21.1.1) (CBMAB-P0676-YC)

Provided herein is a Mouse monoclonal antibody against Human Phenylalanine Hydroxylase. The antibody can be used for immunoassay techniques, such as WB, ELISA, IHC.
See all PAH antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
717CT21.1.1
Antibody Isotype
IgG1, κ
Application
WB, ELISA, IHC

Basic Information

Immunogen
A KLH conjugated synthetic peptide between 127-161 amino acids from the Central region of human PAH
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG1, κ
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
PBS with 0.09% sodium azide
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
Phenylalanine Hydroxylase
Introduction
PAH is a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria.
Entrez Gene ID
Human5053
Mouse18478
Rat24616
UniProt ID
HumanP00439
MouseP16331
RatP04176
Alternative Names
Phenylalanine Hydroxylase; Phenylalanine 4-Monooxygenase; Phe-4-Monooxygenase; EC 1.14.16.1; Phenylalanine-4-Hydroxylase; EC 1.14.16; PKU1; PKU; PH;
Function
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Biological Process
Catecholamine biosynthetic process1 PublicationNAS:BHF-UCL
Cellular amino acid biosynthetic processManual Assertion Based On ExperimentTAS:ProtInc
L-phenylalanine catabolic processIEA:UniProtKB-UniPathway
Neurotransmitter biosynthetic process1 PublicationNAS:BHF-UCL
Tyrosine biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cytosol
Involvement in disease
Phenylketonuria (PKU):
Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.
Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA):
Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one.
Hyperphenylalaninemia (HPA):
Mildest form of phenylalanine hydroxylase deficiency.
PTM
Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine.

Yao, Y., Shi, L., Xiao, W., Guo, S., Liu, S., Li, H., & Zhang, S. (2022). Phenylalanine hydroxylase (PAH) plays a positive role during WSSV and Vibrio parahaemolyticus infection in Litopenaeus vannamei. Fish & Shellfish Immunology, 120, 515-525.

Foreman, P. K., Margulis, A. V., Alexander, K., Shediac, R., Calingaert, B., Harding, A., ... & Landis, S. (2021). Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. Orphanet Journal of Rare Diseases, 16(1), 253.

Mordhorst, A., Dhandapani, P., Matthes, S., Mosienko, V., Rothe, M., Todiras, M., ... & Alenina, N. (2021). Phenylalanine hydroxylase contributes to serotonin synthesis in mice.

Aubi, O., Prestegård, K. S., Jung-Kc, K., Shi, T. J. S., Ying, M., Grindheim, A. K., ... & Martinez, A. (2021). The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase. Nature Communications, 12(1), 2073.

Tao, Y., Han, D., Shen, H., & Li, X. (2021). Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. Brain and Development, 43(2), 220-229.

Richards, D. Y., Winn, S. R., Dudley, S., Fedorov, L., Rimann, N., Thöny, B., & Harding, C. O. (2020). A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency. Molecular genetics and metabolism, 131(3), 306-315.

Arturo, E. C., Merkel, G. W., Borne, E., Hansen, M. R., Lisowski, S., Gupta, K., & Jaffe, E. K. (2020). Amino Acid Substitution at Phe80 of Mammalian Phenylalanine Hydroxylase Destabilizes Both Resting‐State and Activated Conformations Increasing the Population of Intermediates. The FASEB Journal, 34(S1), 1-1.

Flydal, M. I., Alcorlo-Pagés, M., Johannessen, F. G., Martínez-Caballero, S., Skjærven, L., Fernandez-Leiro, R., ... & Hermoso, J. A. (2019). Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin. Proceedings of the National Academy of Sciences, 116(23), 11229-11234.

Pecimonova, M., Kluckova, D., Csicsay, F., Reblova, K., Krahulec, J., Procházkova, D., ... & Soltysova, A. (2019). Structural and functional impact of seven missense variants of phenylalanine hydroxylase. Genes, 10(6), 459.

Rajabi, F., Rohr, F., Wessel, A., Martell, L., Dobrowolski, S. F., Guldberg, P., ... & Levy, H. L. (2019). Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Molecular genetics and metabolism, 128(4), 415-421.

Ask a question We look forward to hearing from you.
0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Loading...
Have you used Mouse Anti-PAH Recombinant Antibody (717CT21.1.1)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon $30 eGift Card
Submit a review
Loading...
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.).

Online Inquiry

Documents

Contact us

  • Tel: (USA)
  • (UK)
  • Fax:
  • Email:

Submit A Review

Go to
Compare