Gene Symbol | ABCA4 |
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Entrez Gene | 24 |
Alt Symbol | ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1 |
Species | Human |
Gene Type | protein-coding |
Description | ATP-binding cassette, sub-family A (ABC1), member 4 |
Other Description | ATP binding cassette transporter|ATP-binding cassette sub-family A member 4|ATP-binding cassette transporter, retinal-specific|ATP-binding transporter, retina-specific|RIM ABC transporter|RIM protein|photoreceptor rim protein|retina-specific ABC transporter|retinal-specific ATP-binding cassette transporter|stargardt disease protein |
Swissprots | Q0QD48 O60438 P78363 Q4LE31 O15112 O60915 |
Accessions | AAP33155 CAA75729 EAW73056 EAW73057 EAW73058 P78363 AB210040 BAE06122 AF000148 AAC23915 AF001945 AAC05632 AK295818 BAG58635 AK296896 BAH12450 AK301733 BAG63198 AK301764 BAG63224 AK310492 AL712362 BC172262 AAI72262 BC172565 AAI72565 BM686882 CR627391 CAH10486 DQ426859 ABD90529 U66691 U88667 AAC51144 NM_000350 NP_000341 |
Function | In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. {ECO:0000269|PubMed:10075733}. |
Subcellular Location | Membrane {ECO:0000269|PubMed:10075733}; Multi-pass membrane protein {ECO:0000269|PubMed:10075733}. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor. |
Tissue Specificity | Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells. |
Top Pathways | ABC transporters |
ABCA4 (C-12) - sc-21457 from Santa Cruz Biotechnology
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ABCA4 (H-235) - sc-20967 from Santa Cruz Biotechnology
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ABCA4 (N-14) - sc-21455 from Santa Cruz Biotechnology
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ABCA4 (3F4) - sc-65672 from Santa Cruz Biotechnology
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Anti-ABCA4 antibody - ab72955 from Abcam
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Anti-ABCA4 antibody [3F4] - ab77285 from Abcam
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Anti-ABCA4 antibody - C-terminal - ab181766 from Abcam
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Anti-ABCA4 Antibody (aa2250-2263) - LS-C87292 from LifeSpan Bioscience
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Anti-ABCA4 Antibody (aa1336-49) - LS-C87406 from LifeSpan Bioscience
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Anti-ABCA4 Antibody (clone 3F4) - LS-C150327 from LifeSpan Bioscience
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Anti-ABCA4 Antibody (aa1893-1906) - LS-C313191 from LifeSpan Bioscience
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Anti-ABCA4 Antibody (aa1892-1903) - LS-C313193 from LifeSpan Bioscience
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Anti-ABCA4 Antibody (C-Terminus) - LS-C155165 from LifeSpan Bioscience
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ABCA4 Antibody (3F4) - NBP1-30032 from Novus Biologicals
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ABCA4 Antibody - H00000024-A01 from Novus Biologicals
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ABCA4 Antibody - NB100-93468 from Novus Biologicals
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ABCA4 Antibody - NBP1-28804 from Novus Biologicals
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Anti-ABCA4 antibody produced in rabbit - SAB4301189 from Sigma-Aldrich
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ABCA4-Antibody-C-Term - AF2776a from Abgent, a WuXi AppTec company
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ABCA4-aa1336-49-Antibody-internal-region - AF2924a from Abgent, a WuXi AppTec company
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ABCA4 (aa1336-49) antibody, Internal - GTX88465 from GeneTex
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ABCA4 (Rim Protein) antibody [3F4] - GTX82741 from GeneTex
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ABCA4 antibody [C3-2], C-term - GTX108371 from GeneTex
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G protein alpha 12 antibody, Internal - GTX45376 from GeneTex
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Anti -ABCA4 (ABCR, RMP, RP19, STGD, STGD1, ARMD2, CORD3, FFM, Stargardt disease, RIM ABCtransporter, ATP-binding cassette transporter, retinal-specific) - 144101 from USBiological Life Science
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