Products

Enzyme-linked Immunoabsorbent Assay

Entrez GeneID

Protein Accession#

Gene Name

ABCA4

Gene Alias

ABC10, ABCR, ARMD2, CORD3, DKFZp781N1972, FFM, FLJ17534, RMP, RP19, STGD, STGD1

Gene Description

ATP-binding cassette, sub-family A (ABC1), member 4

Omim ID

Gene Ontology

Gene Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq

Other Designations

ATP binding cassette transporter|ATP-binding cassette, sub-family A member 4|ATP-binding transporter, retina-specific|OTTHUMP00000012366|photoreceptor rim protein|retina-specific ABC transporter