Retinal-Specific ATP-Binding Cassette Transporter (ABCA4) Antibody

Product specifications

Primary Antibodies

Retinal-Specific ATP-Binding Cassette Transporter (ABCA4)

Rabbit

Human, Mouse, Rat

ELISA: 1 µg/ml, WB: 1/100 - 1/500. Optimal dilutions/concentrations should be determined by the end user.

Polyclonal

Unconjugated

IgG

Purified by affinity chromatography.

20 µl

100 µl

2 × 100 µl

Liquid

ELISA, WB

PBS, pH 7.3, containing 0.09% sodium azide, 50% glycerol.

Shipped within 5-10 working days.

Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles.

No

P78363

24

NP_000341.2

153800

ABC10,ABCR,ARMD2,CORD3,FFM,STGD1,ATP binding cassette subfamily A member 4

Antibody anti-ABCA4

RUO

Concentration: 0.56 mg/ml - 

Descripción

ABCA4, also known as the photoreceptor-specific ABC transporter, is expressed in retinal photoreceptor cells, where it facilitates the transport of all-trans-retinal derivatives across photoreceptor disc membranes. This activity is vital for the visual cycle, as it prevents the accumulation of toxic retinoid byproducts that can damage photoreceptors. ABCA4 mutations are linked to several retinal degenerative diseases, including Stargardt disease, cone-rod dystrophy, and retinitis pigmentosa. Structurally, ABCA4 contains two transmembrane and two nucleotide-binding domains, characteristic of ABC transporters, which utilize ATP hydrolysis for substrate translocation. The proper function of ABCA4 is critical for maintaining retinal health and visual function, making it a target for therapeutic interventions in retinal disorders.

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ABCA4 antibody

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.

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ABCA4 antibody

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.

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