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

Symbol

ABCA4 (may also be known as: None)

Organism

Human

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 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]

Orthologs

SymbolSpecies
Abca4 Mus musculus
abt-2 Caenorhabditis elegans
Abca4 Rattus norvegicus
abca4b Danio rerio
abca4a Danio rerio

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0006649 phospholipid transfer to membrane biological_process
GO:0006810 transport biological_process
GO:0007059 chromosome segregation biological_process
GO:0007601 visual perception biological_process
GO:0007603 phototransduction, visible light biological_process
GO:0030261 chromosome condensation biological_process
GO:0045494 photoreceptor cell maintenance biological_process
GO:0050896 response to stimulus biological_process
GO:0055085 transmembrane transport biological_process
GO:0005624 membrane fraction cellular_component
GO:0005886 plasma membrane cellular_component
GO:0005887 integral to plasma membrane cellular_component
GO:0009295 nucleoid cellular_component
GO:0000166 nucleotide binding molecular_function
GO:0003677 DNA binding molecular_function
GO:0004012 phospholipid-translocating ATPase activity molecular_function
GO:0005215 transporter activity molecular_function
GO:0005524 ATP binding molecular_function
GO:0016887 ATPase activity molecular_function
GO:0042626 ATPase activity, coupled to transmembrane movement of substances molecular_function