OTC, Official Symbol OTCprovided by HGNC Official Full Name ornithine transcarbamylaseprovided by HGNC Primary source HGNC:HGNC:8512 See related Ensembl:ENSG00000036473 MIM:300461; AllianceGenome:HGNC:8512 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as OCTD; OTC1; OTCD; OTCase Summary This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022] Expression Biased expression in liver (RPKM 75.1), duodenum (RPKM 47.8) and 1 other tissue See more Orthologs mouse all