ABC10 antibody, ABCR antibody, ARMD2 antibody, CORD3 antibody, FFM antibody, RMP antibody, RP19 antibody, STGD antibody, STGD1 antibody, AW050280 antibody, Abc10 antibody, Abcr antibody, D430003I15Rik antibody, RmP antibody, abcr antibody, ffm antibody, rmp antibody, rp19 antibody, stgd antibody, abc10 antibody, armd2 antibody, cord3 antibody, stgd1 antibody, zgc:91823 antibody, ATP binding cassette subfamily A member 4 antibody, ATP-binding cassette, sub-family A (ABC1), member 4 antibody, ATP binding cassette subfamily A member 4 L homeolog antibody, ATP-binding cassette, sub-family A (ABC1), member 4a antibody, ABCA4 antibody, Abca4 antibody, abca4 antibody, abca4.L antibody, abca4a antibody
Background
The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene.