Recombinant Human PAH

• Cat.No.: PAH-28935TH
• Product Overview: Recombinant Full Length Human PAH expressed in Saccharomyces cerevisiae; amino acids 1-452; 452 amino acids, 51.9kDa.

Specification

• Description: PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria.
• Form: Liquid
• Purity: >90% by SDS-PAGE
• Storage buffer: Preservative: NoneConstituents: 30% Glycerol, 0.5% Triton-X-100, 50mM HEPES, 30mM Glutathione, 100mM Sodium chloride, 1mM DTT, pH 7.5
• Storage: Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid repeated freeze / thaw cycles.
• Sequences of amino acids: MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFS LKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPW FPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKT HACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPE PDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSE KPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSE IGILCSALQKIK
• Sequence Similarities: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.Contains 1 ACT domain.

Gene Information

• Gene Name: PAH phenylalanine hydroxylase [ Homo sapiens ]
• Official Symbol: PAH
• Synonyms: PAH; phenylalanine hydroxylase; phenylalanine-4-hydroxylase; PH; phenylalanine 4 monooxygenase
• Gene ID: 5053
• mRNA Refseq: NM_000277
• Protein Refseq: NP_000268
• MIM: 612349
• Uniprot ID: P00439
• Chromosome Location: 12q22-q24.2
• Pathway: Biogenic Amine Synthesis, organism-specific biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of amino acids and derivatives, organism-specific biosystem; Phenylalanine and tyrosine catabolism, organism-specific biosystem
• Function: amino acid binding; iron ion binding; metal ion binding; phenylalanine 4-monooxygenase activity