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Gene, Transcriptome, Protein, Pathway or Disease. 

Gene basic information

LiverAtlas Gene ID

HuLG003363

Entrez Gene ID

5053

Official Gene Symbol

PAH

Synonyms

PH|PKU|PKU1

Gene name

phenylalanine hydroxylase

Gene Type

protein-coding

Chromosome

12

Genomics Location

12q22-q24.2

Known cancer genes

Yes

Protein products

Phenylalanine-4-hydroxylase

Phenylalanine hydroxylase

Phenylalanine hydroxylase

Related liver disease name

Hepatocellular carcinoma

Database cross reference

HGNC:8582
MIM:612349
Ensembl:ENSG00000171759
HPRD:08943
RefSeq Genomic nucleotide accession:AC_000055
RefSeq Genomic nucleotide gi:89161189

Liver relevance

HCC significant genes

Yes/No

Yes

Evidence

EHCO OncoDB

Quality score

 

Ontology annotation

GO ID

GO annotation

GO:0004505

phenylalanine 4-monooxygenase activity

GO:0005506

iron ion binding

GO:0005829

cytosol

GO:0006559

L-phenylalanine catabolic process

GO:0006571

tyrosine biosynthetic process

GO:0008652

cellular amino acid biosynthetic process

GO:0016597

amino acid binding

GO:0018126

protein hydroxylation

GO:0034641

cellular nitrogen compound metabolic process

GO:0042136

neurotransmitter biosynthetic process

GO:0042423

catecholamine biosynthetic process

GO:0042803

protein homodimerization activity

GO:0046146

tetrahydrobiopterin metabolic process

GO:0046872

metal ion binding

GO:0048037

cofactor binding