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Article

Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.

Human mutation - 1 Apr 2010

Luksan Ondrej, Jirsa Milan, Eberova Jitka, Minks Jakub, Treslova Helena, Bouckova Michaela, Storkanova Gabriela, Vlaskova Hana, Hrebicek Martin, Dvorakova Lenka

Abstract excerpt

In a female patient with signs of ornithine carbamoyltransferase deficiency (OTCD), the only variation found was a heterozygous single nucleotide substitution c.-366A>G. Determination of transcription start sites of human OTC 95, 119 and 169 bp upstream of the initiation codon located the variation upstream of the 5'-untranslated region. We predicted the human promoter and enhancer elements from homology with rat...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20127982
DOI: 10.1002/humu.21215

Genes

OTC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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