rs886046405

This variant is located in the CPT2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

Carnitine palmitoyltransferase II deficiency

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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