The OTC gene homepage

General information
Gene symbol OTC
Gene name ornithine carbamoyltransferase
Chromosome X
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_008471.1
Transcript reference NM_000531.5
Exon/intron information NM_000531.5 exon/intron table
Associated with diseases OTCD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 562
Unique public DNA variants reported 424
Individuals with public variants 870
Hidden variants 1
Download all this gene's data Download all data
Notes The database was initiated based on the publications from Tuchman (2002) and Yamaguchi (2006).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created October 29, 2006
Date last updated February 14, 2023
Version OTC:230214

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000531.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 8512
Entrez Gene 5009
PubMed articles OTC
OMIM - Gene 300461
OMIM - Diseases OTCD (deficiency, ornithine carbamoyltransferase (OTCD))
GeneCards OTC
GeneTests OTC
Orphanet OTC

Active transcripts




NCBI ID     

NCBI Protein ID     

00000593 X ornithine carbamoyltransferase NM_000531.5 NP_000522.3 562

Copyright & disclaimer
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