Protein Name homogentisate 1,2-dioxygenase
Organism Homo sapiens
Gene ID 3081
Gene Symbol

HGD

UniProt Q93099 (HGD_HUMAN), B3KW64 (B3KW64_HUMAN)
Relationships Total Number of functionally related compound(s) : 75
Total Number of Articles : 119
Description

homogentisate 1,2-dioxygenase

Gene Summary

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.[provided by RefSeq, May 2010]

synonyms
  • homogentisate 1,2-dioxygenase
  • homogentisate oxidase
  • homogentisate oxygenase
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Properties