Gene Symbol | CPT2 |
Entrez Gene ID | 1376 |
Full Name | carnitine palmitoyltransferase 2 |
Synonyms | CPT1,CPTASE,IIAE4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | CPT II deficiency, myopathic, stress-induced, 255110 (3); CPT II deficiency, infantile, 600649 (3); CPT II deficiency, lethal neonatal, 608836 (3); {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3) |