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]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.00
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
7
Fusions detected in 4 cancer type(s)
Overall
Tissue specific
Functional class:
Enzyme
JensenLab PubMed score:
662.56 (Percentile rank: 92.89%)
PubTator score:
1445.31 (Percentile rank: 97.59%)
Target development/druggability level:
TclinThese targets have activities in DrugCentral (ie. approved drugs) with known mechanism of action.
Tractability (small molecule):
Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
