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Gene Model: Pah

NomenclatureGenomic Location
SymbolPahChromosome1
NamePhenylalaine hydroxylaseLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 13 Mbp

Molecular Function

L-phenylalanine + tetrahydrobiopterin + O2 = L-tyrosine + 4a-hydroxytetrahydrobiopterin.

Molecular Function Terms:

binding
   amine binding
      amino acid binding
   cofactor binding
   ion binding
      cation binding
         metal ion binding

catalytic activity
   oxidoreductase activity
      monooxygenase activity

Human Disease Association

Defects in PAH are the cause of phenylketonuria (PKU) [MIM:261600]. PKU is an autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.

Defects in PAH are the cause of non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]. Non-PKU HPA is a mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one.

Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:261600]. HPA is the mildest form of phenylalanine hydroxylase deficiency.

Predicted Transcript
     1 TGTTCAGCTACAGTTTGCTCTGAAAAAGTATTCCTTTCCCACGACCCAAGTGAATGGTCT
    61 GAAGAATCCAGCTACATTGAAGAAAGCAGTACCCAGTGTGATGCCATCTCCTTGATCTTT
   121 TCTCTCAAAGAAGAAGTTGGAGCTTTAGCAAAAGTTCTCCGCATATTTGAGGAAAGGGGG
   181 ATAAACCTGACCCACATTGAGTCCAGACCTTCGCGACTGAACAAAGATGAATATGAGTTT
   241 TTCATCAACGTGGAAAGCAAGAACATACCTGCTCTTGAGAAAATCATCAGGACTTTGAGA
   301 GATGACATTGGAGCAAACGTTCATGAGCTCTCACGGGAAAAGAGGAAAGATGCCGTACCA
   361 TGGTTCCCAAGAAGCATACAAGAACTGGACAGATTTGCAAATCAGATTCTTAGTTATGGA
   421 GCAGAACTGGATGCTGATCACCCAGGGTTCAAAGATCCTGTTTACCGGGCCAGAAGAAAG
   481 GAATTTGCAGATATAGCATACAACTACAGACATGGCCAGCCTATCCCCAGAGTGACTTAC
   541 ACGGAGGAAGAGAAGAAAACATGGGGAACAGTTTTCAGGGAGCTGAAGACTCTGTATCCT
   601 ACACATGCTTGCTATGAACACAATCATGTCTTCCCTCTCCTGGAAAAATACTGTGGTTAC
   661 CAAGAAGACAATATTCCACAGCTGGAAGATGTCTCCAACTTCTTGAAAAGCTGCACTGGA
   721 TTTCGCCTACGTCCAGTGGCTGGCCTTCTCTCATCTCGGGATTTTTTGGGTGGCTTGGCT
   781 TTCAGAGTGTTTCATTCTACCCAATACATTCGTCATTCATCAAAACCAATGTACACACCA
   841 GAACCTGATGTTTGCCATGAACTTCTAGGTCATGTTCCTTTGTTTGCTGATCCCAGTTTT
   901 GCTCAGTTTTCCCAAGAAATTGGATTGGCTTCCCTGGGAGCTCCAGATGAATACATTGAG
   961 AAACTTGCTACGGTTTACTGGTTTACAGTTGAATTTGGGCTGTGCAAAGAAGGCAATGCT
  1021 ATTAAAGCCTATGGAGCTGGTTTGCTGTCATCATATGGTGAATTACAGCATTGCTTGTCA
  1081 AATAAACCAGTGATTGAACCTCTCAACCTAGAGAGGACATCCATTCAGAAATATCCAGTC
  1141 ACTGAATTCCAGCCTATTTACTATGTTGCTGAAAGTTTTAAAGATGCAAAGCAAAAGTTA
  1201 AGGAAATATGCCTCCATCATTCCTCGTCCATTCTCAGTCCGGTACAATCCATATACTGAA
  1261 AGGATTGAGGTTCTGGATAACACCAAGCAGCTGAAGAATTTAGCAGACGCTATCAACAAT
  1321 GAAATGGGACTTCTTTGCAATGCTCTTCAGAAGATCAAATGA

Predicted Protein Product
CSATVCSEKVFLSHDPSEWSEESSYIEESSTQCDAISLIFSLKEEVGALAKVLRIFEERG
INLTHIESRPSRLNKDEYEFFINVESKNIPALEKIIRTLRDDIGANVHELSREKRKDAVP
WFPRSIQELDRFANQILSYGAELDADHPGFKDPVYRARRKEFADIAYNYRHGQPIPRVTY
TEEEKKTWGTVFRELKTLYPTHACYEHNHVFPLLEKYCGYQEDNIPQLEDVSNFLKSCTG
FRLRPVAGLLSSRDFLGGLAFRVFHSTQYIRHSSKPMYTPEPDVCHELLGHVPLFADPSF
AQFSQEIGLASLGAPDEYIEKLATVYWFTVEFGLCKEGNAIKAYGAGLLSSYGELQHCLS
NKPVIEPLNLERTSIQKYPVTEFQPIYYVAESFKDAKQKLRKYASIIPRPFSVRYNPYTE
RIEVLDNTKQLKNLADAINNEMGLLCNALQKIK
Protein Alignment to Mouse
sp|P16331|PH4H_MOUSE Phenylalanine-4-hydroxylase OS=Mus musculus GN=Pah PE=1
            SV=3
        Length = 453

 Score = 1889 (670.0 bits), Expect = 9.8e-196, P = 9.8e-196
 Identities = 346/422 (81%), Positives = 392/422 (92%)

Query:    32 QCDAISLIFSLKEEVGALAKVLRIFEERGINLTHIESRPSRLNKDEYEFFINVESKNIPA 91
             Q  A+SLIFSLKEEVGALAKVLR+FEE  INLTHIESRPSRLNKDEYEFF  ++ ++ P 
Sbjct:    31 QNGAVSLIFSLKEEVGALAKVLRLFEENEINLTHIESRPSRLNKDEYEFFTYLDKRSKPV 90

Query:    92 LEKIIRTLRDDIGANVHELSREKRKDAVPWFPRSIQELDRFANQILSYGAELDADHPGFK 151
             L  II++LR+DIGA VHELSR+K K+ VPWFPR+IQELDRFANQILSYGAELDADHPGFK
Sbjct:    91 LGSIIKSLRNDIGATVHELSRDKEKNTVPWFPRTIQELDRFANQILSYGAELDADHPGFK 150

Query:   152 DPVYRARRKEFADIAYNYRHGQPIPRVTYTEEEKKTWGTVFRELKTLYPTHACYEHNHVF 211
             DPVYRARRK+FADIAYNYRHGQPIPRV YTEEE+KTWGTVFR LK LY THACYEHNH+F
Sbjct:   151 DPVYRARRKQFADIAYNYRHGQPIPRVEYTEEERKTWGTVFRTLKALYKTHACYEHNHIF 210

Query:   212 PLLEKYCGYQEDNIPQLEDVSNFLKSCTGFRLRPVAGLLSSRDFLGGLAFRVFHSTQYIR 271
             PLLEKYCG++EDNIPQLEDVS FL++CTGFRLRPVAGLLSSRDFLGGLAFRVFH TQYIR
Sbjct:   211 PLLEKYCGFREDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIR 270

Query:   272 HSSKPMYTPEPDVCHELLGHVPLFADPSFAQFSQEIGLASLGAPDEYIEKLATVYWFTVE 331
             H SKPMYTPEPD+CHELLGHVPLF+D SFAQFSQEIGLASLGAPDEYIEKLAT+YWFTVE
Sbjct:   271 HGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVE 330

Query:   332 FGLCKEGNAIKAYGAGLLSSYGELQHCLSNKPVIEPLNLERTSIQKYPVTEFQPIYYVAE 391
             FGLCKEG++IKAYGAGLLSS+GELQ+CLS+KP + PL LE+T+ Q+Y VTEF+P+YYVAE
Sbjct:   331 FGLCKEGDSIKAYGAGLLSSFGELQYCLSDKPKLLPLELEKTACQEYTVTEFRPLYYVAE 390

Query:   392 SFKDAKQKLRKYASIIPRPFSVRYNPYTERIEVLDNTKQLKNLADAINNEMGLLCNALQK 451
             SF DAK+K+R +A+ IPRPFSVRY+PYT+R+EVLDNT+QLKNLAD+IN+E+G+LC+ALQK
Sbjct:   391 SFNDAKEKVRTFAATIPRPFSVRYDPYTQRVEVLDNTQQLKNLADSINSEVGILCHALQK 450

Query:   452 IK 453
             IK
Sbjct:   451 IK 452