Gene: LOC112267865

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: PAH

Alternate names for this Gene: PH|PKU|PKU1

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.2

Description of this Gene: phenylalanine hydroxylase

Type of Gene: protein-coding