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Literature summary for 2.1.3.3 extracted from

  • Quental, R.; Azevedo, L.; Rubio, V.; Diogo, L.; Amorim, A.
    Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene (2009), Clin. Genet., 75, 457-464.
    View publication on PubMed

Application

Application Comment Organism
medicine use of multiplex ligation-dependent probe amplification methodology to three ornithine transcarbamylase deficiency patients, two females and one male, reveals copy number alterations of ornithine transcarbamylase exons in all of them. The two females are heterozygous for deletions of either exon 2 or exons 6-9, and the male is confirmed to lack all exons. Females' characterization of the deletion breakpoints reveal mutations corresponding to exon 2 and exon 6-9 deletions, respectively. Exon 2 deletion probably results from replication slippage facilitated by a secondary structure formed by two inverted Alu repeats, whereas an Alu-Alu homologous recombination is probably responsible for the exon 6_9 deletion Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
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patients with ornithine transcarbamylase deficiency
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