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. 2013 Dec 17;170(8):1706–1796. doi: 10.1111/bph.12450
Systematic nomenclature Common abbreviation HGNC, UniProt Comment
ABCA1 ABC1, CERP ABCA1, O95477 Loss-of-function mutations are associated with Tangier disease, in which plasma HDL cholesterol levels are greatly reduced
ABCA2 ABC2 ABCA2, Q9BZC7
ABCA3 ABC3, ABCC ABCA3, Q99758 Loss-of-function mutations are associated with pulmonary surfactant deficiency
ABCA4 ABCR ABCA4, P78363 Retinal-specific transporter of N-retinylPE; loss-of-function mutations are associated with Stargardt disease, a juvenile onset macular degenerative disease
ABCA5 ABCA5, Q8WWZ7
ABCA6 ABCA6, Q8N139
ABCA7 ABCA7, Q8IZY2 Genome wide association studies identify ABCA7 variants as associated with Alzheimer's Disease 6
ABCA8 ABCA8, O94911
ABCA9 ABCA9, Q8IUA7
ABCA10 ABCA10, Q8WWZ4
ABCA12 ABCA12, Q86UK0 Reported to play a role in skin ceramide formation 23
ABCA13 ABCA13, Q86UQ4