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Apo C-II Deficiency

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APOC2 deficiency; Hyperlipoproteinemia type Ib; C-II anapolipoproteinemia

Definition and Characteristics

Autosomal recessive defect of apolipoprotein C-II (apo C-II), the cofactor of lipoprotein lipase (LPL), leading to excessive fasting hypertriglyceridemia and chylomicronemia.

As a result of the hypertriglyceridemia the patients may suffer from pancreatitis, eruptive xanthomas, lipemia retinalis, and hepatosplenomegaly. Heterozygous carriers are typically normolipidemic. Clinically and biochemically, apo C-II deficiency closely mimics LPL deficiency.


Extremely rare, <1:106.


APOC2, localized on chromosome 19q13.2, contains four exons, overall length 3,570 bp, a single transcript of 717 bp. An overview of published mutations is shown in Table 1.

Apo C-II Deficiency. Table 1 Mutations in the APOC2 gene

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© 2009 Springer-Verlag GmbH Berlin Heidelberg

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Hoffmann, M.M., März, W. (2009). Apo C-II Deficiency. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg.

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