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Literature summary for 2.1.3.3 extracted from

  • Yamaguchi, S.; Brailey, L.L.; Morizono, H.; Bale, A.E.; Tuchman, M.
    Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene (2006), Hum. Mutat., 27, 626-632.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
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Homo sapiens

Protein Variants

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/ Products (Substrates)

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
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Substrates and Products (Substrate)

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
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?
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
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Synonyms

Synonyms Comment Organism
OTC
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Homo sapiens