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 |
Human ABCA4 peptide - ab87350 from Abcam
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Human ABCA4 protein fragment - ab114660 from Abcam
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ABCA4 Antibody Blocking Peptide - LS-E26747 from LifeSpan Bioscience
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ABCA4 Antibody Blocking Peptide - LS-E27004 from LifeSpan Bioscience
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Recombinant Human ABCA4 Protein - H00000024-Q01 from Novus Biologicals
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ABCA4 (aa1336-49) blocking peptide - GTX88465-PEP from GeneTex
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ABCA4 Immunizing peptide - orb55116 from Biorbyt
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Goat anti ABCA4 antibody Immunizing peptide - orb50479 from Biorbyt
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ABCA4 Blocking Peptide - abx161244 from Abbexa
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ABCA4 Peptide - AC21-1583-P from Abcore
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ABCA4 Peptide - AC21-1828-P from Abcore
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ABCA4 - H00000024-Q01-10 from Acris Antibodies
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ABCA4 - H00000024-Q01-25 from Acris Antibodies
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ABCA4 Peptide - 46-923P from ProSci
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ABCA4 Peptide - 46-788P from ProSci
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Recombinant ATP Binding Cassette Transporter A4 (ABCA4) - RPD620Hu01 from Uscn Life Science Inc.
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ABCA4 Blocking Peptide - CBP3743 from Cohesion Biosciences
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Recombinant ATP Binding Cassette Transporter A4 (ABCA4) - RPD620Hu01 from Cloud-clone
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Recombinant Human IL-24 (Carrier-free) - 21-7153 from Tonbo Biosciences
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ABCA4, Peptide - MBS425337 from MyBioSource
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ABCA4, Peptide - MBS658639 from MyBioSource
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ABCA4, Peptide - MBS428537 from MyBioSource
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ABCA4 Peptide, Human - M34GP00034H from Creative Peptides
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ABCA4 Recombinant Protein (OPCD01006) - OPCD01006 from Aviva Systems Biology
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Recombinant Human Retinal-specific ATP-binding cassette transporter(ABCA4) ,partial,Yeast - CSB-YP001040HU from Cusabio
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