Mutation:PAH
From Proteopedia
(Difference between revisions)
Sequence
⎈ mutations with manual annotation;pathogenic;benign;not yet reviewed;
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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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</StructureSection> | </StructureSection> | ||
== References == | == References == | ||
<references/> | <references/> | ||
Revision as of 04:27, 21 January 2018
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