DISEASES

Disease-gene associations mined from literature

Literature associating APOC2 and familial hyperlipidemia

APOC2 [ENSP00000466775]

Proapolipoprotein C-II; 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.

Synonyms:  APOC2,  APOC2p,  hAPOC2,  A0A024R0T9,  APOC4-APOC2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM