NP_000341.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
retinal-specific ATP-binding cassette transporter
NCBI Official Synonym Full Names
ATP binding cassette subfamily A member 4
NCBI Official Synonym Symbols
FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1 [Similar Products]
NCBI Protein Information
retinal-specific ATP-binding cassette transporter
UniProt Protein Name
Retinal-specific ATP-binding cassette transporter
UniProt Synonym Protein Names
ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Stargardt disease protein
UniProt Synonym Gene Names
NCBI Summary for ABCA4
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. [provided by RefSeq, Jul 2008]
UniProt Comments for ABCA4
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.
Research Articles on ABCA4
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Products associated with anti-ABCA4 antibody
Pathways associated with anti-ABCA4 antibody
Diseases associated with anti-ABCA4 antibody
Organs/Tissues associated with anti-ABCA4 antibody
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