Biophysical Approaches Facilitate Computational Drug Discovery for ATP-Binding Cassette Proteins

Table 1

Relative characterization of ABC proteins that cause human diseases when mutated.

Gene	Protein	Endogenous substrate(s)	Disease	Publications on disease	Structure(s) in Protein Data Bank	Ref.
ABCA1	—	Cholesterol, phospholipids	Tangier disease	>700	N	[1]
ABCA3	—	Lipids, cholesterol	Newborn respiratory distress syndrome	>16,000	N	[42]
ABCA4	—	Vitamin A derivatives	Stargardt disease	>500	N	[1]
ABCA12	—	Lipids	Harlequin-type ichthyosis	>1,000	N	[43]
ABCB2	TAP1	Cytosolic peptides	Ankylosing spondylitis	>16,000	Y (cryo-EM, X-ray)	[40, 44, 45]
ABCB3	TAP2	Cytosolic peptides	Ankylosing spondylitis	>16,000	Y (cryo-EM)	[40, 45]
ABCB4	MDR2	Phospholipids	Progressive familial intrahepatic cholestasis type 3	>100	N	[1]
ABCB7	—	Heme, iron-sulfur clusters	X-linked sideroblastosis and anemia	>30	N	[1]
ABCB11	BSEP	Taurocholate, cholate conjugates	Progressive familial intrahepatic cholestasis type 2	>100	N	[1]
ABCC2	MRP2	Organic anions	Dubin-Johnson syndrome	>800	N	[46]
ABCC6	MRP6	Organic anions	Pseudoxanthoma elasticum	>1,700	N	[47]
ABCC7	CFTR	Chloride, bicarbonate	Cystic Fibrosis	>45,000	Y (cryo-EM, X-ray, NMR)	[15, 41, 48, 49]
ABCC8	SUR1	Sulfonylurea	Familial persistent hyperinsulinemic hypoglycemia of infancy	>100	Y (cryo-EM)	[1, 9]
ABCC9	SUR2	Sulfonylurea	Dilated cardiomyopathy with ventricular tachycardia	>100	N	[1]
ABCD1	ALD	Fatty acids	Adrenoleukodystrophy	>2,000	N	[1]
ABCG5	—	Sterols	Sitosterolemia	>200	Y (X-ray)	[50, 51]
ABCG8	—	Sterols	Sitosterolemia	>200	Y (X-ray)	[50, 51]