DISEASES

Disease-gene associations mined from literature

Literature associating APOC3 and Bardet-Biedl syndrome 2

APOC3 [ENSP00000227667]

Apolipoprotein C-III; Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma. Plays a multifaceted role in triglyceride homeostasis. Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors. Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners; Apolipoproteins

Synonyms:  APOC3,  APOC3p,  hAPOC3,  A3KPE2,  APOC3-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM