QuickView for phenylalanine hydroxylase (gene)

Gene Symbol:

PAH Homo sapiens

Full name:

phenylalanine hydroxylase

Synonyms:

PH, PKU, PKU1, phenylalanine-4-hydroxylase, phe-4-monooxygenase, phenylalanine 4-monooxygenase

Genomic Location:

Chr 12: 101756234-101835511

Description:

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.

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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

ATF4_Q2

Cytogenetic Map:

12q23.2

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