Table 1.

Genes associated with various forms of monogenic hyperlipidemia

Gene	OMIM gene	Disease	OMIM disease	Inheritance	Function
APOB	107730	Hypercholesterolemia, B	144010	AD	Major protein constituent of chylomicrons, LDL, VLDL
LDLR	606945	FH	143890	AD	Endocytosis of LDL
PCSK9	607786	FH3	603776	AD	Crucial regulator of plasma cholesterol homeostasis
LDLRAP1	605747	ARH	603813	AR	Endocytosis of LDLR in hepatocytes and lymphocytes
APOE	107741	Hyperlipoproteinemia, type III	617347	AD	Lipoprotein-mediated lipid transport between organs via plasma and interstitial fluids
USF1	191523	Combined hyperlipidemia 1	602491	AD	bHLH transcription factor that binds pyrimidine-rich initiator elements, E-box motifs
ABCA1	600046	Primary hypoalphalipoproteinemia	604091	AR	Cholesteral efflux pump for lipid removal from cells
APOA1	107680	Primary hypoalphalipoproteinemia	604091	AR	Promotion of cholesterol efflux from tissues to liver
LCAT	606967	FED	136120	AR	Esterifying enzyme required for cholesterol transport
LPL	609708	Hyperlipoproteinemia type I	238600	AR	Hydrolysis of triglycerides of circulating chylomicrons, VLDL
APOC2	608083	Apolipoprotein C-II deficiency	207750	AR	Activator of lipoprotein lipase
GPIHBP1	612757	Hyperlipoproteinemia type ID	615947	AR	Lipolytic processing of chylomicrons
GPD1	138420	HTGTI	614480	AR	Synthesis of glycerol-3-phosphate, NAD+
LMF1	611761	Combined lipase deficiency	246650	AR	Maturation and transport of lipoprotein lipase
APOA5	606368	Familial hypertriglyceridemia	145750	AD	Regulator of plasma triglyceride levels

FH=familial hypercholesterolemia; ARH=autosomal recessive hypercholesterolemia; FED=Fish-eye disease; HTGTI=transient infantile hypertriglyceridemia; AD=autosomal dominant; AR=autosomal recessive.