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PH / PAH

phenylalanine hydroxylase

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.

Gene Name:	phenylalanine hydroxylase
Synonyms:	PAH, Phe-4-monooxygenase, PKU1, PH, Phenylalanine 4-monooxygenase, Phe-4- monooxygenase, Phenylalanine hydroxylase, Phenylalanine-4-hydroxylase, PKU
Target Sequences:	NM_000277 NP_000268.1 P00439

Publications (1)

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria10<sup> Genomic Medicine Unit, Sanofi, 49 New York Avenue, Framingham, MA, 01701, USA. Sirkka.Kyostio-Moore@sanofi.com. Kuldeep Singh , Cathleen S Cornell, Robert Jackson, Mostafa Kabiri, Michael Phipps, Mitul Desai, Robert Fogle, Xiaoyou Ying, Gulbenk Anarat-Cappillino, Sarah Geller, Jennifer Johnson, Errin Roberts, Katie Malley, Tim Devlin, Matthew DeRiso, Patricia Berthelette, Yao V Zhang, Susan Ryan, Srinivas Rao, Beth L Thurberg, Dinesh S Bangari, Sirkka Kyostio-Moore. Scientific reports. 2021 Mar;11:7254. [Full Text Article] [PubMed:33790381] [PMC:PMC8012645] Related Antibodies: LS-C344145.

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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).

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