ABCA4 Products

Description

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.

Bioinformatics

Entrez	11304 Mouse 24 Human
Uniprot	NP_000341 Human NP_000341.2 Human
Product By Gene ID	24
Alternate Names	ABC10 ABCRRMP ARMD2DKFZp781N1972 ATP binding cassette transporter ATP-binding cassette sub-family A member 4 ATP-binding cassette transporter, retinal-specific ATP-binding cassette, sub-family A (ABC1), member 4 ATP-binding transporter, retina-specific CORD3 EC 3.6.3 FFMFLJ17534 photoreceptor rim protein retinal-specific ATP-binding cassette transporter retina-specific ABC transporter RIM ABC transporter RIM protein RmP RP19 Stargardt disease protein STGD STGD1

Research Areas for ABCA4

Find related products by research area and learn more about each of the different research areas below.

ABC Transporters
Lipid and Metabolism
Vision