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ABCA4

ATP-binding cassette, sub-family A (ABC1), member 4

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.

Gene Name: ATP-binding cassette, sub-family A (ABC1), member 4
Family/Subfamily: Transporter , ATP-binding cassette - ABCA/ABC1
Synonyms: ABCA4, ABCR, ABC10, ARMD2, CORD3, FFM, RIM ABC transporter, RIM protein, RMP, RP19, STGD, Photoreceptor rim protein, Stargardt disease protein, STGD1
Target Sequences: NM_000350 NP_000341.2 P78363

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Proteins (2)
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ABCA4 (2)
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His, N-Terminal (1)
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Wheat Germ Extract (1)
ABCA4 Protein - Recombinant  ATP Binding Cassette Transporter A4 By SDS-PAGE
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E. coli
His, N-Terminal
45.7 kDa
10 µg/$279; 50 µg/$432; 100 µg/$690; 200 µg/$862; 1 mg/$1,962; 500 µg/$1,505; 5 mg/$3,011; 2 mg/$2,148
ABCA4 Protein - 12.5% SDS-PAGE Stained with Coomassie Blue.
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Wheat Germ Extract
GST, N-terminus
10 µg/$479; 25 µg/$670
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For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).