Application | Comment | Organism |
---|---|---|
medicine | missense mutation in exon 13 (G360R) and exon 3 (K57N) affecting homogentisate 1,2-dioxygenase function by interfering with substrate traffic at active site causing alkaptonuria, a rare recessive phanylalanine/tyrosine metabolism disorder | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
PCR of coding region of DNA extracted from EDTA blood sample | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
G360R | active site mutation in exon 13 | Homo sapiens |
K57N | active site mutation in exon 3 | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
homogentisate + O2 | Homo sapiens | - |
4-maleylacetoacetate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q93099 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
homogentisate + O2 | - |
Homo sapiens | 4-maleylacetoacetate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
HgD | - |
Homo sapiens |
homogentisate 1,2-dioxygenase | - |
Homo sapiens |