QuickView for ABCA4 (gene)

Gene Symbol:

ABCA4 Homo sapiens

Full name:

ATP binding cassette subfamily A member 4

Synonyms:

ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1, retinal-specific ATP-binding cassette transporter, ATP binding cassette transporter, ATP-binding cassette sub-family A member 4, ATP-binding cassette transporter, retinal-specific, ATP-binding cassette, sub-family A (ABC1), member 4, ATP-binding transporter, retina-specific, RIM ABC transporter, RIM protein, photoreceptor rim protein, retina-specific ABC transporter, stargardt disease protein

Genomic Location:

Chr 1: 94230981-94359293

Description:

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 ...

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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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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Canis lupus familiaris ,  Danio rerio ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GGATTA_PITX2_Q2

Cytogenetic Map:

1p22.1

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