Carnitine palmitoyltransferase II

CPT2
Identifiers
Aliases	CPT2, CPT1, CPTASE, IIAE4, carnitine palmitoyltransferase 2
External IDs	OMIM: 600650 MGI: 109176 HomoloGene: 77 GeneCards: CPT2
Gene location (Human) Chr. Chromosome 1 (human) Band 1p32.3 Start 53,196,429 bp End 53,214,197 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 C7|4 50.18 cM Start 107,903,981 bp End 107,923,610 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity, transferring acyl groups • transferase activity • carnitine O-palmitoyltransferase activity Cellular component • membrane • nucleolus • nucleoplasm • mitochondrion • mitochondrial inner membrane Biological process • carnitine shuttle • fatty acid metabolic process • lipid metabolic process • fatty acid beta-oxidation • regulation of lipid metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1376	12896
Ensembl	ENSG00000157184	ENSMUSG00000028607
UniProt	P23786	P52825
RefSeq (mRNA)	NM_000098 NM_001330589	NM_009949
RefSeq (protein)	NP_000089 NP_001317518	NP_034079
Location (UCSC)	Chr 1: 53.2 – 53.21 Mb	Chr 1: 107.9 – 107.92 Mb
PubMed search

1376

12896

ENSG00000157184

ENSMUSG00000028607

P23786

P52825

NM_000098
NM_001330589

NM_009949

NP_000089
NP_001317518

NP_034079

Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.

Carnitine palmitoyltransferase II precursor (CPT2) is a mitochondrial membrane protein which is transported to the . CPT2 together with carnitine palmitoyltransferase I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders and carnitine palmitoyltransferase II deficiency.

Model organisms have been used in the study of CPT2 function. A conditional knockout mouse line called Cpt2^{tm1b(KOMP)Wtsi} was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping

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