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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

Chromosome 12 - NC_000012.12

Genomic sequence of PAH gene

Genomic sequence of PAH gene

Bibliography

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
See all (263) citations in PubMed See citations in PubMed for homologs of this gene provided by HomoloGene

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