Cloned (Comment) | Organism |
---|---|
- |
Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | screening and analysis of naturally occuring mutations and polymorphisms in the OTC gene, defects in the OTC gene cause a block in ureagenesis resulting in hyperammonemia, which can lead to brain damage and death, phenotypes of mutated individuals, overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
carbamoyl phosphate + L-ornithine | Homo sapiens | ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X-linked trait, defects in the OTC gene, especially at clusters of the substrate binding sites, cause a block in ureagenesis resulting in hyperammonemia, which can lead to brain damage and death | phosphate + L-citrulline | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
carbamoyl phosphate + L-ornithine | ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X-linked trait, defects in the OTC gene, especially at clusters of the substrate binding sites, cause a block in ureagenesis resulting in hyperammonemia, which can lead to brain damage and death | Homo sapiens | phosphate + L-citrulline | - |
? | |
carbamoyl phosphate + L-ornithine | the carbamoyl phosphate binding site contains the highly conserved motif Ser90-Thr91-Arg92-Thr93-Arg94, the ornithine binding site contains the His302-Cys303-Leu304-Pro305 motif | Homo sapiens | phosphate + L-citrulline | - |
? |
Synonyms | Comment | Organism |
---|---|---|
OTC | - |
Homo sapiens |