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RNA tissue category: Group enriched (duodenum, liver, small intestine)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (liver, small intestine)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (colon, liver, small intestine)
GENE INFORMATION
Gene name
OTC
Synonyms
Description
Ornithine carbamoyltransferase (HGNC Symbol)
Entrez gene summary
This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)