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General information
Gene symbol CPT2
Gene name carnitine palmitoyltransferase 2
Chromosome 1
Chromosomal band p32
Imprinted Unknown
Genomic reference NG_008035.1
Transcript reference NM_000098.2
Exon/intron information NM_000098.2
Associated with diseases carnitine palmitoyltransferase II deficiency, infantile, carnitine palmitoyltransferase II deficiency, late-onset, carnitine palmitoyltransferase II deficiency, lethal neonatal, Encephalopathy, acute, infection-induced, 4, susceptibility to
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 5
Unique public DNA variants reported 5
Individuals with public variants 5
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) 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 February 05, 2017
Version CPT2:170205

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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
External URL Orphanet
HGNC 2330
Entrez Gene 1376
PubMed articles CPT2
OMIM - Gene 600650
OMIM - Diseases carnitine palmitoyltransferase II deficiency, infantile
carnitine palmitoyltransferase II deficiency, late-onset
carnitine palmitoyltransferase II deficiency, lethal neonatal
Encephalopathy, acute, infection-induced, 4, susceptibility to
GeneCards CPT2
GeneTests CPT2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000105 1 carnitine palmitoyltransferase 2 NM_000098.2 NP_000089.1 5

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