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Sequence in raw or FASTA format:

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PAH phenylalanine hydroxylase [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000277 Homo sapiens phenylalanine hydroxylase (PAH), mRNA. ORF Sequence $394.11
Peptide Services
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Protein Services


Gene Symbol PAH
Entrez Gene ID 5053
Full Name phenylalanine hydroxylase
Synonyms PH, PKU, PKU1
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 Full Length $777.20
ORF Sequence $394.11
KEGG
hsa00400Phenylalanine, tyrosine and tryptophan biosynthesis
hsa00360Phenylalanine metabolism
WikiPathways
WP706SIDS Susceptibility Pathways
WP550Biogenic Amine Synthesis
BIOCYC
META_PHENYLALANINE-DEG1-PWYphenylalanine degradation I (aerobic)
META_PWY-6134tyrosine biosynthesis IV
HUMAN_PWY-6134tyrosine biosynthesis IV
HUMAN_PHENYLALANINE-DEG1-PWYphenylalanine degradation I (aerobic)
Reactome
REACT_13Metabolism of amino acids and derivatives
REACT_1786Phenylalanine and tyrosine catabolism
REACT_111217Metabolism
REACT_121117Abnormal metabolism in phenylketonuria
REACT_116125Disease
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_523963.2
Caenorhabditis eleganspah-1NP_495863.1
GeneCards PAH
PDB 1DMW, 4ANP, 1MMK, 1J8T, 2PAH, 1MMT, 1TG2, 1PAH, 1KW0, 4PAH, 3PAH, 1TDW, 6PAH, 1J8U, 5PAH, 1LRM
UniProt P00439
MIM 612349
Ensembl ENSG00000171759
HGNC 8582
HPRD 08943

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

General protein information

Preferred Names
phenylalanine-4-hydroxylase
Names
phenylalanine-4-hydroxylase
phe-4-monooxygenase
phenylalanine 4-monooxygenase
NP_000268.1

Interactant

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