rs1057287341
This variant is located in the CPT2 gene.
▶ClinVar annotation
Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4; Carnitine palmitoyl transferase II deficiency, myopathic form; Encephalopathy, acute, infection-induced, susceptibility to, 4; Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, neonatal form; Inborn genetic diseases; not provided
View on ClinVar →About CPT2
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]
View all CPT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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