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Literature summary for 1.13.11.5 extracted from

  • Laschi, M.; Tinti, L.; Braconi, D.; Millucci, L.; Ghezzi, L.; Amato, L.; Selvi, E.; Spreafico, A.; Bernardini, G.; Santucci, A.
    Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria (2012), J. Cell. Physiol., 227, 3254-3257.
    View publication on PubMedView publication on EuropePMC

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
homogentisate + O2 Homo sapiens
-
4-maleylacetoacetate
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens Q93099
-
-

Source Tissue

Source Tissue Comment Organism Textmining
chondrocyte primary culture, alkaptonuria chondrocytes show a 10% increase of the enzyme expression compared to normal ones Homo sapiens
-
additional information enzyme expression analysis in human normal and alkaptonuria chondrocytes, synoviocytes, osteoblasts as well as in human osteosarcoma cells, overview Homo sapiens
-
osteoarticular cell
-
Homo sapiens
-
osteoblast
-
Homo sapiens
-
synoviocyte
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
homogentisate + O2
-
Homo sapiens 4-maleylacetoacetate
-
?

Synonyms

Synonyms Comment Organism
HgD
-
Homo sapiens
homogentisate 1,2 dioxygenase
-
Homo sapiens

General Information

General Information Comment Organism
malfunction alkaptonuria results from defective homogentisate1,2-dioxygenase, causing degenerative arthropathy. The deposition of ochronotic pigment in joints is so far attributed to homogentisic acid produced by the liver, circulating in the blood and accumulating locally. Alkaptonuria osteoarticular cells produce the ochronotic pigment in loco and this may strongly contribute to induction of ochronotic arthropath Homo sapiens