Entity Details

Primary name PAH
Entity type gene
Source Source Link

Details

PrimaryID5053
RefseqGeneNG_008690
SymbolPAH
Namephenylalanine hydroxylase
Chromosome12
Location12q23.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1991-02-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPH4H_HUMAN

GO terms

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GOName
GO:0004505 phenylalanine 4-monooxygenase activity
GO:0005506 iron ion binding
GO:0005829 cytosol
GO:0006558 L-phenylalanine metabolic process
GO:0006559 L-phenylalanine catabolic process
GO:0006571 tyrosine biosynthetic process
GO:0008652 cellular amino acid biosynthetic process
GO:0042136 neurotransmitter biosynthetic process
GO:0042423 catecholamine biosynthetic process

Diseases

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Disease IDSourceNameDescription
261600 OMIMPhenylketonuria (PKU)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. The disease is caused by variants affecting the gene represented in this entry.
261600 OMIMPhenylketonuria (PKU)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. The disease is caused by variants affecting the gene represented in this entry.
261600 OMIMPhenylketonuria (PKU)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions

InteractorPartnerSourcesPublicationsLink
PAHRPS24BioGRID, IntAct21988832 details
PAHPAHBioGRID, HPRD11461190 9642259 details
PAHQDPRBioGRID11461190 details
PAHPCBD1BioGRID11461190 details
PAHCDH1BioGRID33260674 details