Entrez gene ID | | 5053 |
Official gene symbol | | PAH |
Full name | | phenylalanine hydroxylase |
Aliases | | ,PH,PKU,PKU1, |
Gene summary | | PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q22-q24.2 |
Gene position | | 103311381 - 103232104 Map Viewer |
Gene orientation | | minus |
Gene size | | 79278 bp |
Gene sequence |
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OMIM ID | | 612349 |
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