| Worm gene name: | PAH-1 |
| Worm sequence name: | K08F8.4 |
| Related human gene: | phenylalanine hydroxylase |
| Associated human disease: | phenylketonuria |
| People involved in this project: |
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| Left primer sequence: | ccgctccaaaatacacacct |
| Right primer sequence: | gatggtagctgcccatgatt |
| Size of PCR product: | 401 |
| Brief description: | Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (EC 1.14.16.1), an enzyme that catalyzes the hydroxylation of phenylalanine to tyrosine, the rate-limiting step in phenylalanine catabolism. The reaction is dependent on tetrahydrobiopterin (BH4), as a cofactor, molecular oxygen, and iron. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia. (from OMIM) |
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