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 (2) Bert Bakker and Johan den Dunnen
Total number of public variants reported 498
Unique public DNA variants reported 399
Individuals with public variants 660
Hidden variants 0
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 August 05, 2017
Version OTC:170805

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 https://www.LOVD.nl/OTC
External URL Orphanet
HGNC 8512
Entrez Gene 5009
PubMed articles OTC
OMIM - Gene 300461
OMIM - Diseases OTCD (ornithine carbamoyltransferase deficiency (OTCD))
HGMD OTC
GeneCards OTC
GeneTests OTC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000593 X ornithine carbamoyltransferase NM_000531.5 NP_000522.3 498


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2006-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.