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Merck

ABCA4

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

Synonyms:
ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
Species:
UniProtKB ID:
Gene ID:
  • Human(24) Summary: 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]
  • Mouse(11304) ATP-binding cassette, sub-family A (ABC1), member 4
  • Rat(310836) ATP-binding cassette, subfamily A (ABC1), member 4
  • Thale Cress(823929) ATP binding cassette subfamily A4
  • chicken(424490) ATP-binding cassette, sub-family A (ABC1), member 4
  • cow(281584) ATP-binding cassette, sub-family A (ABC1), member 4
  • Horse(100058746) ATP-binding cassette, sub-family A (ABC1), member 4
  • domestic cat(101099571) ATP-binding cassette, sub-family A (ABC1), member 4
  • dog(444852) ATP-binding cassette, sub-family A (ABC1), member 4
  • sheep(101107561) ATP-binding cassette, sub-family A (ABC1), member 4
  • domestic guinea pig(100725431) ATP-binding cassette, sub-family A (ABC1), member 4
  • naked mole-rat(101725111) ATP-binding cassette, sub-family A (ABC1), member 4

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Antibodies

Product Number
Description
Species Reactivity
Application
Anti-ABCA4 Antibody, clone TMR1, clone TMR1, from mouse,
Species Reactivity
bovine, human, mouse
Application
immunocytochemistry
immunofluorescence

western blot