Table 2Diseases and phenotypes caused by ABC genes

GeneMendelian disorderComplex diseaseOMIM
ABCA1 Tangier disease, FHDLD a 600046
ABCA4 Stargardt/FFM, RP, CRD, CDAMD 248200
ABCB1 Ivermectin susceptibilityDigoxin uptake 171050
ABCB2 Immune deficiency 170260
ABCB3 Immune deficiency 170261
ABCB4 PFIC3ICP 171060
ABCB7 XLSA/A 300135
ABCB11 PFIC2 603201
ABCC2 Dubin-Johnson Syndrome 601107
ABCC6 Pseudoxanthoma elasticum 603234
ABCC7 Cystic Fibrosis, CBAVDPancreatitis, bronchiectasis 602421
ABCC8FPHHI 600509
ABCD1 ALD 300100
ABCG5 Sitosterolemia 605459
ABCG8 Sitosterolemia 605460
a

FHDLD, familial hypoapoproteinemia; FFM, fundus flavimaculatis; RP, retinitis pigmentosum 19; CRD, cone-rod dystrophy; AMD, age-related macular degeneration; PFIC, progressive familial intrahepatic cholestasis; ICP, intrahepatic cholestasis of pregnancy; XLSA/A, X-linked sideroblastosis and anemia; CBAVD, congential bilateral absence of the vas deferens; FPHHI, Familial persistent hyperinsulinemic hypoglycemia of infancy; ALD, adrenoleukodystrophy.

From: The Human ATP-Binding Cassette (ABC) Transporter Superfamily

Cover of The Human ATP-Binding Cassette (ABC) Transporter Superfamily
The Human ATP-Binding Cassette (ABC) Transporter Superfamily [Internet].
Dean M.

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