ABCA4 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - ABC Transporter, Retina-Specific Gene - ABC10 - ABCR - ARMD2 - ATP Binding Cassette Subfamily A Member 4 wt Allele - ATP-Binding Cassette Transporter, Retinal-Specific Gene - ATP-Binding Cassette, Sub-Family A (ABC1), Member 4 Gene - ATP-Binding Cassette, Subfamily A (ABC1), Member 4 Gene - ATP-Binding Transporter, Retina-Specific Gene - CORD3 - FFM - RMP - RP19 - Retina-Specific ABC Transporter Gene - STGD - STGD1 - Stargardt Disease Gene