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PAH (Phenylalanine hydroxylase) gene, Homo sapiens
Do you need expression-ready
PAH gene to study the functions and characteristics? GenScript offers PAH gene in any custom vector for your molecular biology studies by ordering an
PAH ORF clone.
About the PAH gene
PAH 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].
Genomic context of PAH gene
The human PAH gene is shown in the context of the human genome below. To see information about the PAH gene in other species, please use the Search tool to select your desired species. GenScript has in-stock ORF clones for mouse PAH, rat PAH, and human PAH, as well as on-demand PAH ORF clones in other 183 species.
Chromosome 12 - NC_000012.12
Genomic sequence of PAH gene
1.Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu N, et al. BMC Med Genet, 2017 Oct 5. PMID 28982351, Free PMC Article
2.Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Pecimonova M, et al. Gen Physiol Biophys, 2017 Oct. PMID 28653649
3.[Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province].
Li H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2017 Jun 10. PMID 28604955
4.DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
Item CB, et al. Clin Biochem, 2017 Aug. PMID 28389235
5.In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Trunzo R, et al. Gene, 2016 Dec 5. PMID 27620137
See all (263) citations in PubMed
See citations in PubMed for homologs of this gene provided by HomoloGene