Gene table of PAH : phenylalanine hydroxylase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PAH	OMIM link	Number of associated genes	genes
261600	PHENYLKETONURIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PAH

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Biosynthesis of amino acids	hsa01230	6.58
Metabolic pathways	hsa01100	2.49
Phenylalanine, tyrosine and tryptophan biosynthesis	hsa00400	10.45
Phenylalanine metabolism	hsa00360	8.6

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Phenylketonuria	R-HSA-2160456	12.98
Phenylalanine and tyrosine catabolism	R-HSA-71182	9.66
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Diseases of metabolism	R-HSA-5668914	6.57
Metabolism	R-HSA-1430728	2.34
Disease	R-HSA-1643685	3.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
anion binding	GO:0043168	4.17
cation binding	GO:0043169	1.4
phenylalanine 4-monooxygenase activity	GO:0004505	8.64
metal ion binding	GO:0046872	1.41
transition metal ion binding	GO:0046914	2.48
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	GO:0016714	7.79
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
carboxylic acid binding	GO:0031406	4.64
monooxygenase activity	GO:0004497	5.1
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein dimerization activity	GO:0046983	2.72
oxidoreductase activity	GO:0016491	3.12
amino acid binding	GO:0016597	5.71
iron ion binding	GO:0005506	4.65
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16