| 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] |
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