View CPT1A gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol CPT1A
Gene name carnitine palmitoyltransferase 1A (liver)
Chromosome 11
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_001031847.2, NM_001876.3, XM_005273762.1, XM_005273763.1, XM_005273764.1
Associated with diseases 255120
Citation reference(s) -
Curators (0) -
Total number of public variants reported 34
Unique public DNA variants reported 33
Individuals with public variants 0
Hidden variants 0
Notes MSeqDR-LSDB
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 2328
Entrez Gene 1374
PubMed articles CPT1A
OMIM - Gene 600528
OMIM - Diseases 255120 (CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY)
HGMD CPT1A
GeneCards CPT1A
GeneTests CPT1A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000662 11 transcript variant 1 NM_001876.3 NP_001867.2 34
00000660 11 transcript variant 2 NM_001031847.2 NP_001027017.1 33
00000661 11 transcript variant X2 XM_005273763.1 XP_005273820.1 33
00000663 11 transcript variant X3 XM_005273764.1 XP_005273821.1 33
00000664 11 transcript variant X1 XM_005273762.1 XP_005273819.1 33


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