Application | Comment | Organism |
---|---|---|
medicine | alkaptonuria: rare hereditary disorder of the phenylalanine catabolism, patients are deficient in homogentisate 1,2-dioxygenase and carry two copies of a loss-of-function allele of HGO gene, disease causes homogentisic aciduria, ochronosis and arthritis | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
HGO gene on chromosome 3 is cloned, completely sequenced and characterized, identification of its promoter region, transcriptional control of the gene | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | alkaptonuric humans are deficient for homogentisate 1,2-dioxygenase and carry two copies of a loss-of-function allele of HGO gene | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q93099 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
colon | - |
Homo sapiens | - |
kidney | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
prostate gland | - |
Homo sapiens | - |
small intestine | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
homogentisate + O2 | - |
Homo sapiens | 4-maleylacetoacetate | - |
? |