Preferred Label : ABCA4 wt Allele;
NCIt synonyms : ATP Binding Cassette Subfamily A Member 4 wt Allele; STGD1; ATP-Binding Cassette Transporter, Retinal-Specific Gene; RMP; Retina-Specific ABC Transporter Gene; ABC Transporter, Retina-Specific Gene; STGD; FFM; ATP-Binding Transporter, Retina-Specific Gene; ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 Gene; ABCR; CORD3; ABC10; Stargardt Disease Gene; RP19; ATP-Binding Cassette, Subfamily A (ABC1), Member 4 Gene; ARMD2;
NCIt definition : Human ABCA4 wild-type allele is located in the vicinity of 1p22.1 and is approximately
128 kb in length. This allele, which encodes retinal-specific phospholipid-transporting
ATPase ABCA4 protein, plays a role in phospholipid translocation in photoreceptor
cells. Mutation of the gene is associated with Stargardt disease 1 (fundus flavimaculatus;
early-onset severe retinal dystrophy), cone-rod dystrophy 3, retinitis pigmentosa
19 and age-related macular degeneration 2.;
GenBank Accession Number : U88667;
Origin ID : C213797;
OMIM relation
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
