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PAH phenylalanine hydroxylase [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu25787 NM_000277 Homo sapiens phenylalanine hydroxylase (PAH), mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu25787C NM_000277 Homo sapiens phenylalanine hydroxylase (PAH), mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol PAH
Entrez Gene ID 5053
Full Name phenylalanine hydroxylase
Synonyms PH, PKU, PKU1
General protein information
Preferred Names
phenylalanine-4-hydroxylase
Names
phenylalanine-4-hydroxylase
phe-4-monooxygenase
phenylalanine 4-monooxygenase
NP_000268.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q22-q24.2

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 612349

Phenylketonuria, 261600 (3); [Hyperphenylalaninemia, non-PKU mild],

mRNA Protein Product Sequence Price Select
NM_000277, 4557818 NP_000268, 4557819 phenylalanine-4-hydroxylase ORF Sequence $550.00
KEGG
hsa00360Phenylalanine metabolism
hsa00400Phenylalanine, tyrosine and tryptophan biosynthesis
hsa01230Biosynthesis of amino acids
WikiPathways
WP550Biogenic Amine Synthesis
WP706SIDS Susceptibility Pathways
BIOCYC
META_PWY-6134tyrosine biosynthesis IV
META_PHENYLALANINE-DEG1-PWYphenylalanine degradation I (aerobic)
HUMAN_PHENYLALANINE-DEG1-PWYphenylalanine degradation I (aerobic)
HUMAN_PWY-6134tyrosine biosynthesis IV
Reactome
REACT_13Metabolism of amino acids and derivatives
REACT_1786Phenylalanine and tyrosine catabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_121117Abnormal metabolism in phenylketonuria
Homo sapiens (human)PAHNP_000268.1
Pan troglodytes (chimpanzee)PAHXP_001156919.1
Macaca mulatta (Rhesus monkey)PAHXP_001094859.1
Canis lupus familiaris (dog)PAHXP_532671.3
Bos taurus (cattle)PAHNP_001039523.1
Mus musculus (house mouse)PahNP_032803.2
Rattus norvegicus (Norway rat)PahNP_036751.2
Gallus gallus (chicken)PAHNP_001001298.1
Danio rerio (zebrafish)pahNP_956845.1
Drosophila melanogaster (fruit fly)HnNP_001261542.1
Caenorhabditis eleganspah-1NP_001254185.1
Xenopus (Silurana) tropicalis (western clawed frog)pahNP_001027484.1
Process
IDNameEvidence
GO:0006559L-phenylalanine catabolic processIEA
GO:0006559L-phenylalanine catabolic processTAS
GO:0008652cellular amino acid biosynthetic processTAS
GO:0034641cellular nitrogen compound metabolic processTAS
GO:0042136neurotransmitter biosynthetic processNAS
GO:0042423catecholamine biosynthetic processNAS
GO:0044281small molecule metabolic processTAS
GO:0055114oxidation-reduction processIEA
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004505phenylalanine 4-monooxygenase activityEXP
GO:0005506iron ion bindingIEA
GO:0016597amino acid bindingIEA
GeneCards PAH
PDB 1DMW, 4ANP, 1MMK, 1J8T, 2PAH, 1MMT, 1TG2, 1PAH, 1KW0, 4PAH, 3PAH, 1TDW, 6PAH, 1J8U, 5PAH, 1LRM
UniProt P00439
Vega OTTHUMG00000169966
MIM 612349
Ensembl ENSG00000171759
HGNC 8582
HPRD 08943

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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