Full Product Name
PAH Polyclonal Antibody
Product Gene Name
anti-PAH antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for P00439
Other Notes
Small volumes of anti-PAH antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for PAH. It may not necessarily be applicable to this product.
NCBI Accession #
NP_000268.1
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NCBI GenBank Nucleotide #
NM_000277.2
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UniProt Primary Accession #
P00439
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UniProt Secondary Accession #
Q16717; Q8TC14[Other Products]
UniProt Related Accession #
P00439[Other Products]
Molecular Weight
51,862 Da
NCBI Official Full Name
phenylalanine-4-hydroxylase
NCBI Official Synonym Full Names
phenylalanine hydroxylase
NCBI Official Symbol
PAH??[Similar Products]
NCBI Official Synonym Symbols
PH; PKU; PKU1
??[Similar Products]
NCBI Protein Information
phenylalanine-4-hydroxylase
UniProt Protein Name
Phenylalanine-4-hydroxylase
UniProt Synonym Protein Names
Phe-4-monooxygenase
Protein Family
Phenylalanine-4-hydroxylase
UniProt Gene Name
PAH??[Similar Products]
UniProt Synonym Gene Names
PAH??[Similar Products]
NCBI Summary for PAH
This gene encodes 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. [provided by RefSeq, Aug 2017]
Research Articles on PAH
1. 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
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Disclaimer
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