Abca4 - ATP-binding cassette, sub-family A (ABC1), member 4 Gene
Also Known as RmP; Abcr; Abc10; D430003I15Rik
Species: Mus musculus
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 was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
Abca4 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_007378.1 | NP_031404.1 | retinal-specific phospholipid-transporting ATPase ABCA4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ATPase-coupled intramembrane lipid transporter activity |
IMP
IMP: Inferred from mutant phenotype
|
10412977 | MGI |
| enables N-retinylidene-phosphatidylethanolamine flippase activity |
IMP
IMP: Inferred from mutant phenotype
|
10412977 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within phospholipid transfer to membrane |
IMP
IMP: Inferred from mutant phenotype
|
10412977 | MGI |
| acts upstream of or within photoreceptor cell maintenance |
IMP
IMP: Inferred from mutant phenotype
|
11431429 | MGI |
| acts upstream of or within visual perception |
IMP
IMP: Inferred from mutant phenotype
|
10412977 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in photoreceptor outer segment |
IDA
IDA: Inferred from direct assay
|
9202155 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
retinal-specific phospholipid-transporting ATPase ABCA4 |
|
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