HGD Back

homogentisate 1,2-dioxygenase (homogentisate oxidase)

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NCBI Description of HGD
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.

Community Annotation of HGD Add / Edit HGD: 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

HGD is highly significantly mutated in
(none)
HGD is significantly mutated in
(none)
HGD 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 HGD