HPD Back

4-hydroxyphenylpyruvate dioxygenase

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NCBI Description of HPD
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene.

Community Annotation of HPD Add / Edit HPD: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

HPD is highly significantly mutated in
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HPD is significantly mutated in
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HPD is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for HPD