CPS1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol CPS1
Gene name carbamoyl-phosphate synthase 1, mitochondrial
Chromosome 2
Chromosomal band p
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001122633.2, NM_001122634.2, NM_001875.4
Associated with diseases 237300, PHN
Citation reference(s) -
Curators (0) -
Total number of public variants reported 210
Unique public DNA variants reported 200
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 2323
Entrez Gene 1373
PubMed articles CPS1
OMIM - Gene 608307
OMIM - Diseases 237300 (Carbamoylphosphate synthetase I deficiency)
PHN ({Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3))
GeneCards CPS1
GeneTests CPS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000657 2 transcript variant 1 NM_001122633.2 NP_001116105.1 210
00000658 2 transcript variant 2 NM_001875.4 NP_001866.2 207
00000659 2 transcript variant 3 NM_001122634.2 NP_001116106.1 173

Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium