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MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PC
Gene name pyruvate carboxylase
Chromosome 11
Chromosomal band q13.4-q13.5
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_000920.3, NM_001040716.1, NM_022172.2, XM_005274030.1, XM_005274031.1, XM_005274032.1
Associated with diseases 266150
Citation reference(s) -
Curators (0) -
Total number of public variants reported 32
Unique public DNA variants reported 19
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
Date created November 07, 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 8636
Entrez Gene 5091
PubMed articles PC
OMIM - Gene 608786
OMIM - Diseases 266150 (Pyruvate carboxylase deficiency, 266150 (3))
HGMD PC
GeneCards PC
GeneTests PC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000243 11 transcript variant 3 NM_001040716.1 NP_001035806.1 32
00000239 11 transcript variant X1 XM_005274030.1 XP_005274087.1 22
00000240 11 transcript variant X2 XM_005274031.1 XP_005274088.1 22
00000241 11 transcript variant X3 XM_005274032.1 XP_005274089.1 22
00000242 11 transcript variant 1 NM_000920.3 NP_000911.2 22
00000244 11 transcript variant 2 NM_022172.2 NP_071504.2 22


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium