DISEASES

Disease-gene associations mined from literature

Literature associating APOC1 and hypobetalipoproteinemia

APOC1 [ENSP00000465356]

Truncated apolipoprotein C-I; Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein; Belongs to the apolipoprotein C1 family.

Synonyms:  APOC1,  APOC1p,  hAPOC1,  A0A024R0T8,  K7EJI9 ...

Linkouts:  STRING  Pharos  UniProt