Worm gene name: |
PAH-1
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Worm sequence name: |
K08F8.4
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Related human gene: |
phenylalanine hydroxylase
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Associated human disease: |
phenylketonuria
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People involved in this project: |
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Left primer sequence: |
ccgctccaaaatacacacct
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Right primer sequence: |
gatggtagctgcccatgatt
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Size of PCR product: |
401
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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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Report any problems that might have appeared and any solutions: |
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