Mouse Anti-PAH Recombinant Antibody (CBYC-P139) (CBMAB-P0678-YC)

Name: Mouse Anti-PAH Recombinant Antibody (CBYC-P139)
SKU: CBMAB-P0678-YC
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBYC-P139

Application

WB, ICC, IHC-P, IHC-Fr, ELISA

Immunogen

Phenylalanine Hydroxylase

Specificity

Human

Antibody Isotype

IgG

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, pH 7.4, 0.02% sodium azide, 50% glycerol

Storage

Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

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

5053

UniProt ID

P00439

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.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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Isotype control

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

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