Species Human Entrez 1376 | Human Mouse Ensembl ENSG00000157184 | |
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Aliases CPT2, CPT1, CPTASE, IIAE4, carnitine palmitoyltransferase 2 External IDs OMIM: 600650 MGI: 109176 HomoloGene: 77 GeneCards: CPT2 | ||
Carnitine palmitoyltransferase ii deficiency medical condition
Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.
Contents
Streptococcus pyogenes carnitine palmitoyltransferase ii deficiency
Function
Carnitine palmitoyltransferase II precursor (CPT2) is a mitochondrial membrane protein which is transported to the mitochondrial inner membrane. 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
Model organisms have been used in the study of CPT2 function. A conditional knockout mouse line called Cpt2tm1b(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