Target Information

Target General Infomation
Target ID
T76213
Former ID
TTDI01963
Target Name
Phenylalanine hydroxylase
Gene Name
PAH
Synonyms
Phe4monooxygenase; Phenylalanine4hydroxylase; PAH
Target Type
Successful
Disease Autoimmune diabetes [ICD10: E08-E13]
Genetic disease [ICD10: Q00-Q99]
Hyperphenylalaninemia [ICD10: E70.1]
Liver failure [ICD10: K72.9]
Phenylketonuria [ICD10: E70.0]
BioChemical Class
Oxidoreductases acting on paired donors
UniProt ID
P00439
EC Number
EC 1.14.16.1
Sequence
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDV
NLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPW
FPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYM
EEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFA
QFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSE
KPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQR
IEVLDNTQQLKILADSINSEIGILCSALQKIK
Drugs and Mode of Action
Drug(s) Sapropterin hydrochloride Drug Info Approved Hyperphenylalaninemia [529282]
HepaStem Drug Info Phase 2 Liver failure [525254]
Phenylalanine hydroxylase Drug Info Phase 2 Autoimmune diabetes [522703]
Inhibitor alpha-methylphenylalanine Drug Info [534546]
fenclonine Drug Info [543386]
Modulator ALTU-236 Drug Info [543386]
BH4 Drug Info
BMN-168 Drug Info [543386]
HepaStem Drug Info [543386]
Phenylalanine hydroxylase Drug Info [532742]
Sapropterin hydrochloride Drug Info [529282]
Pathways
BioCyc Pathway Phenylalanine degradation/tyrosine biosynthesis
KEGG Pathway Phenylalanine metabolism
Phenylalanine, tyrosine and tryptophan biosynthesis
Metabolic pathways
Biosynthesis of amino acids
PathWhiz Pathway Phenylalanine and Tyrosine Metabolism
WikiPathways SIDS Susceptibility Pathways
Biogenic Amine Synthesis
Metabolism of amino acids and derivatives
Abnormal metabolism in phenylketonuria
References
Ref 522703ClinicalTrials.gov (NCT00925054) Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU. U.S. National Institutes of Health.
Ref 525254ClinicalTrials.gov (NCT02489292) Study to Evaluate the Efficacy of HepaStem in Urea Cycle Disorders Paediatric Patients (HEP002).
Ref 5292822007 FDA drug approvals: a year of flux. Nat Rev Drug Discov. 2008 Feb;7(2):107-9.
Ref 5292822007 FDA drug approvals: a year of flux. Nat Rev Drug Discov. 2008 Feb;7(2):107-9.
Ref 532742Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet. 2014 Jul 5;384(9937):37-44.
Ref 534546Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. Science. 1976 Jun 4;192(4243):1007-8.
Ref 543386(http://www.guidetopharmacology.org/) Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 1240).

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