Gene table of PCBD1 : pterin-4 alpha-carbinolamine dehydratase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PCBD1	OMIM link	Number of associated genes	genes
264070	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PCBD1

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

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Phenylalanine and tyrosine catabolism	R-HSA-71182	9.66
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
oxidoreductase activity	GO:0016491	3.12
phenylalanine 4-monooxygenase activity	GO:0004505	8.64
protein binding	GO:0005515	0.46
4-alpha-hydroxytetrahydrobiopterin dehydratase activity	GO:0008124	9.05
hydro-lyase activity	GO:0016836	5.81
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
transcription coactivator activity	GO:0003713	4.04
monooxygenase activity	GO:0004497	5.1
transcription cofactor activity	GO:0003712	3.44
catalytic activity	GO:0003824	1.05
binding	GO:0005488	0.18
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
carbon-oxygen lyase activity	GO:0016835	5.46
lyase activity	GO:0016829	4.53
identical protein binding	GO:0042802	2.63
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