Mutation:PAH: Difference between revisions

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Sequence

mutations with manual annotation; pathogenic; benign; not yet reviewed;
wild type Show which residues have mutations:
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<StructureSection load='' size='' side='right' caption='' scene=''>
<StructureSection load='' size='' side='right' caption='' scene=''>


 
Phenylalanine hydroxylase is responsible for the conversion of phenylalanine to another amino acid, tyrosine. The enzyme works with a molecule called tetrahydrobiopterin (BH4) to carry out this chemical reaction. Tyrosine is used to make several types of hormones, certain chemicals that transmit signals in the brain (neurotransmitters), and a pigment called melanin, which gives hair and skin their color.
 


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== References ==
== References ==
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Revision as of 07:27, 21 January 2018


Phenylalanine hydroxylase is responsible for the conversion of phenylalanine to another amino acid, tyrosine. The enzyme works with a molecule called tetrahydrobiopterin (BH4) to carry out this chemical reaction. Tyrosine is used to make several types of hormones, certain chemicals that transmit signals in the brain (neurotransmitters), and a pigment called melanin, which gives hair and skin their color.


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ReferencesReferences