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MGP002194

Record overview

MGPD IDMGP002194
Gene ID5053
SpeciesHomo sapiens (Human)
Gene Namephenylalanine hydroxylase
Gene Symbol PAH
SynonymsPH; PKU; PKU1;
Alternate namesphenylalanine-4-hydroxylase; phe-4-monooxygenase; phenylalanine 4-monooxygenase;
Chromosome12
Map Location12q22-q24.2
EC Number1.14.16.1
SummaryPAH 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. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for PAH

Proteins

phenylalanine-4-hydroxylase
Refseq ID:NP_000268
Protein GI:4557819
UniProt ID:P00439
mRNA ID:NM_000277
Length:452
RefSeq Status:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRH
DIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKT
HACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFA
QFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK
 
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