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Gene: OTC (ornithine carbamoyltransferase) Homo sapiens
Symbol: OTC
Name: ornithine carbamoyltransferase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MGC129967; MGC129968; MGC138856; OCTD; ornithine carbamoyltransferase, mitochondrial; ornithine transcarbamylase; OTCase
Mus musculus (house mouse) : Otc (ornithine transcarbamylase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Otc (ornithine carbamoyltransferase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Otc (ornithine carbamoyltransferase)
Pan paniscus (bonobo/pygmy chimpanzee) : OTC (ornithine carbamoyltransferase)
Canis lupus familiaris (dog) : OTC (ornithine carbamoyltransferase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Otc (ornithine carbamoyltransferase)
Sus scrofa (pig) : OTC (ornithine carbamoyltransferase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X38,352,483 - 38,421,450 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X38,211,736 - 38,280,703 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X38,096,680 - 38,165,647 (+)NCBINCBI36hg18NCBI36
Build 34X37,967,574 - 38,036,826NCBI
CeleraX42,349,386 - 42,418,351 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX35,956,917 - 36,026,112 (+)NCBIHuRef
CHM1_1X38,242,780 - 38,311,752 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on OTC
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732939
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.