rs1270720547

This variant is located in the CPT2 gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Carnitine palmitoyltransferase II deficiency

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…