Rabbit anti-Human ABCA4 Polyclonal Antibody

Uniprot Id

P78363

Target Species

Human

Target Name

ABCA4

Target Full Name

Retinal-specific phospholipid-transporting ATPase ABCA4

Target Function

Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like the 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where N-cis-retinylidene-phosphatidylethanolamine (N-cis-R-PE) is then isomerized to its all-trans isomer (N-trans-R-PE) and reduced by RDH8 to produce all-trans-retinol (all-trans-rol) and therefore prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid. May display both ATPase and GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds. Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes the dissociation of N-retinylidene-phosphatidylethanolamine.

Target Involvement

Stargardt disease 1 (STGD1); Fundus flavimaculatus (FFM); Macular degeneration, age-related, 2 (ARMD2); Cone-rod dystrophy 3 (CORD3); Retinitis pigmentosa 19 (RP19)

Target Subcellular Location

Membrane; Multi-pass membrane protein. Endoplasmic reticulum. Cytoplasmic vesicle. Cell projection, cilium, photoreceptor outer segment.

Target Protein Families

ABC transporter superfamily, ABCA family

Target Tissue Specificity

Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Target Synonyms

ABC 10; ABC A4; ABC transporter; retinal-specific; ABC10; ABCA 4; abcA4; ABCA4_HUMAN; ABCR; ARMD 2; ARMD2; ATP binding cassette 10; ATP binding cassette sub family A member 4; ATP binding cassette sub family A member4; ATP binding cassette transporter; ATP binding cassette transporter retinal specific; ATP binding cassette; sub family A (ABC1); member 4; ATP binding cassette; sub family A (ABC1); member4; ATP binding cassette10; ATP binding transporter; retina specific; ATP-binding cassette sub-family A member 4; CORD 3; CORD3; DKFZp781N1972; FFM; FLJ17534; Photoreceptor rim protein; Retina specific ABC transporter; Retinal specific ATP binding cassette transporter; Retinal-specific ATP-binding cassette transporter; RIM ABC transporter; RIM protein; RmP; RP 19; RP19; Stargardt disease protein; STGD; STGD1

Target Background

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, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), 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.