MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001434

UniProt Annotations

Entry Information
Gene Namehomogentisate 1,2-dioxygenase
Protein EntryHGD_HUMAN
UniProt IDQ93099
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityHomogentisate + O(2) = 4-maleylacetoacetate.
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875;
DiseaseAlkaptonuria (AKU) [MIM:203500]: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis. {ECO:0000269|PubMed:10205262, ECO:0000269|PubMed:10340975, ECO:0000269|PubMed:10482952, ECO:0000269|PubMed:10594001, ECO:0000269|PubMed:8782815, ECO:0000269|PubMed:9154114, ECO:0000269|PubMed:9529363, ECO:0000269|PubMed:9630082}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayAmino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
SimilarityBelongs to the homogentisate dioxygenase family. {ECO:0000305}.
SubunitHomohexamer arranged as a dimer of trimers. {ECO:0000269|PubMed:10876237}.
Tissue SpecificityHighest expression in the prostate, small intestine, colon, kidney and liver.
  logo