Mutation:PAH: Difference between revisions
Sequence
⎈ mutations with manual annotation;
pathogenic;
benign;
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<StructureSection load='' size='' side='right' caption='' scene=''> | |||
The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme is responsible for the first step in processing phenylalanine, which is a building block of proteins (an amino acid) obtained through the diet. Phenylalanine is found in all proteins and in some artificial sweeteners. 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.<ref>https://ghr.nlm.nih.gov/gene/PAH</ref> | |||
Point mutations in the PAH gene are known to cause PKU in various ethnic groups, and large deletions or duplications account for up to 3% of the PAH mutations in some ethnic groups.<ref>pmid 18985011 </ref> | |||
* '''ToDo''': cleanup elements between mutations display | |||
* '''ToDo''': use ConSurf colouring on structure. | |||
* '''ToDo''': Implement Template to render ALL mutations of a given model with ConSurf colouring. | |||
* '''ToDo''': Check if model(s) structure loaded before displaying a mutation, to enable showing other structures and back to the sequence/model interaction. Currently model(s) structure loaded only on initial page loading. | |||
</StructureSection> | |||
== References == | |||
<references/> | |||
[[Category: Mutations]] | |||