APOC2
Function
Component of chylomicrons, very low-density lipoproteins (VLDL), low-density lipoproteins (LDL), and high-density lipoproteins (HDL) in plasma. Plays an important role in lipoprotein metabolism as an activator of lipoprotein lipase. Both proapolipoprotein C-II and apolipoprotein C-II can activate lipoprotein lipase. In normolipidemic individuals, it is mainly distributed in the HDL, whereas in hypertriglyceridemic individuals, predominantly found in the VLDL and LDL.
Involvement in disease
Hyperlipoproteinemia 1B
HLPP1B
Autosomal recessive trait characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proapolipoprotein C-II is synthesized as a sialic acid containing glycoprotein which is subsequently desialylated prior to its proteolytic processing.
Proapolipoprotein C-II, the major form found in plasma undergoes proteolytic cleavage of its N-terminal hexapeptide to generate apolipoprotein C-II, which occurs as the minor form in plasma.
Sequence Similarities
Belongs to the apolipoprotein C2 family.
Tissue Specificity
Liver and intestine.
Cellular localization
- Secreted
Alternative names
APC2, APOC2, Apolipoprotein C-II, Apo-CII, ApoC-II, Apolipoprotein C2