Recombinant Human PAH, GST-tagged

• Cat.No.: PAH-469H
• Product Overview: Recombinant Human PAH (1 a.a. - 452 a.a.) fused with GST-tag at N-terminal, was expressed in wheat germ.

Specification

• Species: Human
• Source: Wheat Germ
• Tag: GST
• 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.
• Molecular Mass: 78.2 kDa
• Sequence: MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRL KKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDAD HPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEGKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYC GFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELL GHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEK PKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILAD SINSEIGILCSALQKIK
• Purification: Glutathione Sepharose 4 Fast Flow
• Storage buffer: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH 8.0 in the elution buffer.
• Applications: ELISA; WB
• Storage: Store at -80°C. Aliquot to avoid repeated freezing and thawing.
• OfficialSymbol: PAH

Gene Information

• Gene Name: PAH phenylalanine hydroxylase [ Homo sapiens ]
• Synonyms: PAH; PH; PKU1; PKU; phenylalanine hydroxylase; phenylalanine-4-hydroxylase; phe-4-monooxygenase; phenylalanine 4-monooxygenase; Phe-4-monooxygenase; EC 1.14.16
• Gene ID: 5053
• mRNA Refseq: NM_000277
• Protein Refseq: NP_000268
• MIM: 612349
• UniProt ID: P00439
• Chromosome Location: 12q22-q24.2
• Pathway: Abnormal metabolism in phenylketonuria; Biogenic Amine Synthesis; Disease; Metabolism; Metabolism of amino acids and derivatives
• Function: amino acid binding cofactor binding; iron ion binding; phenylalanine 4-monooxygenase activity; protein homodimerization activity