The CPT1A gene homepage

General information
Gene symbol CPT1A
Gene name carnitine palmitoyltransferase 1A (liver)
Chromosome 11
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_011801.1
Transcript reference NM_001876.3
Associated with diseases carnitine palmitoyltransferase I deficiency
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 41
Unique public DNA variants reported 26
Individuals with public variants 191
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated August 02, 2022
Version CPT1A:220802

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
Homepage URL
HGNC 2328
Entrez Gene 1374
PubMed articles CPT1A
OMIM - Gene 600528
OMIM - Diseases carnitine palmitoyltransferase I deficiency
GeneCards CPT1A
GeneTests CPT1A
Orphanet CPT1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00000087 11 carnitine palmitoyltransferase 1A (liver), transcript variant 2 NM_001876.3 NP_001027017.1 41

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