Table 1. ABC lipid transporters mutated in human disease.

Transporter (Common Name)	Gene Symbol	Major Tissue Distribution	Substrate	Disease (Loss of Function)	Reference
ABCA1	ABCA1	Ubiquitous	Phospholipid Cholesterol	Tangier Disease	[40]
ABCA2	ABCA2	Brain, kidney, lung, heart	Cholesterol	Alzheimer’s Disease	[47]
ABCA3	ABCA3	Lung	Surfactant lipids	Surfactant Metabolism Dysfunction 3	[28]
ABCA4	ABCA4	Retina	N-retinyl- phosphatidylethanolamine	Stargardt Disease	[49]
ABCA12	ABCA12	Lung, skin	Lipids	Harlequin Ichthyosis	[51]
MDR1	ABCB1	Many epithelia, blood-brain barrier	Glucosylceramides	Inflammatory Bowel Disease	[68]
MDR3	ABCB4	Hepatocytes	Long chain phosphatidylcholines	Progressive Familial Intrahepatic Cholestasis 3 (PFIC3)	[13]
BSEP	ABCB11	Hepatocytes	Bile salts	PFIC2	[13]
MRP2	ABCC2	Liver, kidney, intestine	Bilirubin/bile salts	Dubin-Johnson Syndrome	[13]
ALD	ABCD1	Many	Very long chain fatty acids (VLCFA)	Adrenoleukodystrophy	[58]
ABCG5	ABCG5	Enterocytes, hepatocytes	Cholesterol, plant sterols	Sitosterolemia	[61]
ABCG8	ABCG8	Enterocytes, hepatocytes	Cholesterol, plant sterols	Sitosterolemia, Gallstones	[61]