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 | – |