Human Retinal-Specific ATP-Binding Cassette Transporter (ABCA4) Protein
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Description
Human ABCA4 Protein is a recombinant Human protein produced in a Prokaryotic expression system (E. coli).
Documents del producto
Product specifications
| Category | Proteins and Peptides |
| Immunogen Target | Retinal-Specific ATP-Binding Cassette Transporter (ABCA4) |
| Host | E. coli |
| Origin | Human |
| Conjugation | Unconjugated |
| Observed MW | Molecular Weight: Calculated MW: 40.7 kDa Concentration: Prior to lyophilization: 200 µg/ml Sequence Fragment: Gly1398-Asn1727 Tag: N-terminal His tag |
| Expression | Recombinant |
| Purity | > 90% |
| Size 1 | 10 µg |
| Size 2 | 50 µg |
| Size 3 | 100 µg |
| Size 4 | 200 µg |
| Size 5 | 500 µg |
| Form | Lyophilized To keep the original salt concentration, we recommend reconstituting to the original concentration prior to lyophilization (see Concentration) in ddH2O. If a lower concentration is required, dilute in PBS, pH 7.4. If a higher concentration is required, the product can be reconstituted directly in PBS, pH 7.4, though please note that this will change the overall salt concentration. The stock concentration should be between 0.1-1.0 mg/ml. Do not vortex. |
| Tested Applications | WB, SDS-PAGE |
| Buffer | Prior to lyophilization: PBS, pH 7.4, containing 0.01% Sarcosyl, 1 mM DTT, 5% Trehalose and Proclin-300. |
| Availability | Shipped within 5-7 working days. |
| Storage | Store at 2-8 °C for up to one month. Store at -80 °C for up to one year. Avoid repeated freeze/thaw cycles. |
| Dry Ice | No |
| UniProt ID | P78363 |
| Gene ID | 24 |
| Alias | ABC10,ABCR,ARMD2,CORD3,FFM,STGD1,ATP binding cassette subfamily A member 4 |
| Background | Protein ABCA4 |
| Status | RUO |
| Note | This product is for research use only. Not for human consumption, cosmetic, therapeutic or diagnostic use. |
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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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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