2 articles
ABCA1
ABCA1 (ATP-binding cassette subfamily A member 1) is a human cholesterol and phospholipid transporter on chromosome 9q31.1 that exports lipids to apoA-I to form HDL; mutations cause Tangier disease and familial HDL deficiency.
ABCA4
ABCA4 (ABCR, STGD1) is a retina-specific human ABC transporter gene, a flippase clearing N-retinylidene-PE from photoreceptor disks; biallelic mutations cause Stargardt disease, cone-rod dystrophy, and retinitis pigmentosa 19.