Recombinant Human Phenylalanine-4-hydroxylase (PAH)

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Code CSB-EP017396HU
Size $224
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity
Greater than 90% as determined by SDS-PAGE.
Target Names
PAH
Uniprot No.
Research Area
Signal Transduction
Alternative Names
PAH; PH; PH4H_HUMAN; Phe 4 monooxygenase; Phe-4-monooxygenase; Phenylalanine 4 hydroxylase; Phenylalanine hydroxylase; Phenylalanine-4-hydroxylase; PKU; PKU1
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
2-452aa
Target Protein Sequence
STAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
67.7kDa
Protein Length
Full Length of Mature Protein
Tag Info
N-terminal 6xHis-SUMO-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
3-7 business days
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.
Description

CUSABIO team inserts the gene coding for the Human PAH protein (2-452aa) into a plasmid vector to form recombinant plasmid, which is then introduced into e.coli cells. e.coli cells demonstrating successful uptake of the recombinant plasmid are selected based on their ability to survive in the presence of a specific antibiotic. The positive e.coli cells are cultured under conditions that promote the expression of the gene of interest. A N-terminal 6xHis-SUMO tag is linked to the protein. Following expression, affinity purification is used to isolate and purify the recombinant Human PAH protein from the cell lysate. Denaturing SDS-PAGE is then applied to resolve the resulting recombinant Human PAH protein, demonstrating a purity greater than 90%.

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Target Background

Function
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine.
Gene References into Functions
  1. Molecular diagnostics for DNAJC12 variants are thus mandatory in all patients in which deficiencies of PAH and BH4 are genetically excluded. PMID: 29174366
  2. Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China has been reported. PMID: 29390883
  3. a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu, is reported in this study. PMID: 29413232
  4. strong association between particular mutations and minihaplotypes could be useful for prenatal diagnosis and preimplantation genetic diagnosis in affected families PMID: 28676969
  5. PAH mutation was associated with hyperphenylalaninemia. PMID: 29032371
  6. Report a novel intron 11 regulatory element, which is involved in exon 11 splicing, as revealed by the investigated pathogenic effect of variants c.1199+17G>A and c.1199+20G>C, identified in PKU patients. Both mutations cause exon 11 skipping in a minigene system. PMID: 29684050
  7. three novel variants of the PAH gene, p.E178K (c.532G>A), p.V245M (c.733G>A), p.S250F (c.749C>T), showed impaired protein expression and enzyme activity. PMID: 29653233
  8. Among phenylketonuria patients, some with autism at the time of evaluation, six mutations were identified: p.E280K, p.G352Vfs, IVS10nt11, p.I224T, p.R261Q, and p.R252W. Study found no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of die PMID: 26759449
  9. Studies involving co-expression of differently phenylalanine hydroxylase (PAH) alleles have shown that one variant form can influence the other when assembled into a tetramer and have effect on enzyme activity in vitro, and on BH4 responsiveness and PKU phenotype in patients carrying them. [review] PMID: 26919687
  10. 17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain PMID: 27308838
  11. Our findings contribute to better understanding of structure and function of PAH mutated enzymes and optimal treatment of PKU patients carrying these mutations using BH4 supplementation. PMID: 28653649
  12. We obtained a PAH gene variant spectrum for the Northern Chinese population and devised a strategy for gene diagnosis using phenylketonuria pedigrees. PMID: 28982351
  13. Phenylalanine hydroxylase gene mutations are associated with phenylketonuria. PMID: 28604955
  14. DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia have been characterized. PMID: 28389235
  15. In this study, we assigned the phenotypic outcome of three of the five novel mutations and furthermore six not previously classified mutations to one of the four PKU categories. PMID: 26542770
  16. PAH mutation analyses provided further support for genotype-phenotype correlations in patients with hyperphenylalaninemia. The high incidence of phenylketonuria in Nagasaki, the westernmost part of Japan, might be due to migration of people with PAH mutations from China and Korea, and geographic factors. PMID: 27173423
  17. Our study highlighted two novel promoter KLF1 and 3'-region C/EBPalpha motifs in the phenylalanine hydroxylase (PAH) gene which decrease transcription in vitro and, thus, could be considered as PAH expression modifiers. PMID: 27447460
  18. The results of the in vitro residual PAH activity have major implications, both for our understanding of genotype-phenotype correlations, and thereby existing inconsistencies, but also for the elucidation of the molecular basis of tetrahydrobiopterin (BH4) responsiveness. PMID: 27620137
  19. Data provide the structural evidence for a dietary I-phenylalanine (Phe) binding pocket at the subunit-subunit interface of a N-terminal regulatory domain (PAH-RD) dimer, and demonstrate that PAH-RD dimerization depends on Phe binding. PMID: 27049649
  20. The co-expression of two distinct PAH variants revealed possible dominance effects (positive or negative) by one of the variants on residual PAH activity as a result of interallelic complementation. PMID: 26803807
  21. PAH gene mutation analysis combined with STR linkage analysis can provide rapid and accurate prenatal diagnosis for phenylketonuria families PMID: 26600521
  22. The mutation spectrum of PAH gene in Henan seems to differ from that of other regions. Independent assortment of mutant alleles may result in a complex genotype-phenotype correlation. PMID: 27264808
  23. This study identified one novel PAH variant-c.699C>G-and and tries to show a genotype-phenotype relationship also regarding BH4-responsiveness. PMID: 25894915
  24. This study is the first report on tested population genetic structure using VNTR alleles at the PAH gene PMID: 26025954
  25. Aberrant methylation is observed in leukocytes of PAH deficient phenylketonuria patients and is influenced by phenylalanine exposure. PMID: 25990862
  26. We determined phenylalanine hydroxylase function of 30 frequent homozygous and compound heterozygous genotypes covering 55% of the study population. PMID: 25596310
  27. Mutational spectrum was presented for PAH gene in PAH deficiency patients from different parts of Mexico. New mutations were described. PMID: 24941924
  28. mutation spectrum of the gene PAH in the Qinghai population was similar to that in other populations in North China PMID: 26575882
  29. Combining in silico analysis and molecular dynamics simulations (in total 3 mus) we described the structural impact of the mutations, which allowed us to separate 32 out of 34 mutations between groups A and B. PMID: 25750018
  30. 15 different mutations of phenylalanine hydroxylase gene were detected in patients with phenylketonuria. PMID: 25863075
  31. R241C, R408Q and Ex6-96A>G are the most common mutations in PAH in phenylalanine hydroxylase deficiency patients. PMID: 25863076
  32. 15 different mutations were found in 27 unrelated Kurdish PKU patients. IVS4 + 1G > C (c.441 + 1G > C) and IVS7 - 5 T > C (c.843 - 5 T > C) are novel mutations. PAH mutations differ between the Kermanshah province and other parts of Iran. PMID: 24048906
  33. We demonstrated the high expression of PAH and a large increase of PAH activity in differenciated liver progenitor cells. PMID: 24825084
  34. findings suggest that common genetic variations in Phenylalanine hydroxylase are associated with verbal memory in healthy adults. PMID: 23898865
  35. In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. PMID: 24401910
  36. Mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. PMID: 25449068
  37. lipoprotein synthesis in PAH-deficient children, particularly in PKU children, was suppressed in early life. PMID: 24607329
  38. Two polymorphic variants of PAH appear to be risk factors for NSCL/P, rs7485331 and rs12425434 in a Polish population. PMID: 24606907
  39. This is probably the first report of identification of a significantly low proportion of missense PAH mutations from PKU families and together with the presence of a high proportion of splice, insertion-deletion, and nonsense mutations. PMID: 24130151
  40. Analysis of the published data shows similar percentage of the "BH4-responsive" variants of a PAH gene in patients from other countries of Eastern Europe PMID: 24350308
  41. Twenty phenylalanine hydroxylase gene mutations were discovered. PMID: 24510552
  42. A total of 98 mutations were detected in 110 phenylalanine hydroxylase alleles. PMID: 24510568
  43. 125 new mutations were found in exons 6, 7 and 12 of PAH in patients with hyperphenylalaninemia. PMID: 24078561
  44. Genotype-phenotype correlation of PAH gene mutations in phenylketonuria in a Syrian population. PMID: 23856132
  45. The observed phenotype is not always consistent with genotype predicting effect in Chinese phenylalanine hydroxylase deficiency patients. PMID: 23932990
  46. The five most prevalent PAH mutations found in patients were p.R408W, IVS12 + 1G>A, p.R261Q, p.R158Q and IVS2 + 5G>C. PMID: 22526846
  47. A new model for allosteric regulation of phenylalanine hydroxylase: implications for disease and therapeutics. PMID: 23296088
  48. Thirteen different mutations were identified in the PAH gene in Lebanese patients with phenylalanine hydroxylase deficiency. PMID: 23220018
  49. The p.G352fsdelG mutation in the PAH gene does not appear to be prevalent in the Moroccan population and would be responsible for only few cases of phenylketonuria. PMID: 22808937
  50. PAH exon 11 is vulnerable due to a weak 3' splice site. PMID: 22698810

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Involvement in disease
Phenylketonuria (PKU); Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA); Hyperphenylalaninemia (HPA)
Protein Families
Biopterin-dependent aromatic amino acid hydroxylase family
Database Links

HGNC: 8582

OMIM: 261600

KEGG: hsa:5053

STRING: 9606.ENSP00000448059

UniGene: Hs.560019

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