Tclin PAH Phenylalanine-4-hydroxylase

Protein Summary

Description

Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]

Uniprot Accession IDs

• P00439
• Q16717
• Q8TC14
• PAH

Gene Name

• PAH

Ensembl ID

• ENST00000553106
• ENSP00000448059
• ENSG00000171759

Symbol

• PH
• PKU
• PKU1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.85
molecular function	0.63
biological term	0.62
drug	0.6
gene perturbation	0.6

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 360.51   (req: < 5)

Gene RIFs: 176   (req: <= 3)

Antibodies: 260   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 360.51   (req: >= 5)

Gene RIFs: 176   (req: > 3)

Antibodies: 260   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 1

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1