| Gene Symbol |
ABCA4
|
| Entrez Gene |
24
|
| Alt Symbol |
ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ATP-binding cassette, sub-family A (ABC1), member 4
|
| Other Description |
ATP binding cassette transporter|ATP-binding cassette sub-family A member 4|ATP-binding cassette transporter, retinal-specific|ATP-binding transporter, retina-specific|RIM ABC transporter|RIM protein|photoreceptor rim protein|retina-specific ABC transporter|retinal-specific ATP-binding cassette transporter|stargardt disease protein
|
| Swissprots |
Q0QD48 O60438 P78363 Q4LE31 O15112 O60915
|
| Accessions |
AAP33155 CAA75729 EAW73056 EAW73057 EAW73058 P78363 AB210040 BAE06122 AF000148 AAC23915 AF001945 AAC05632 AK295818 BAG58635 AK296896 BAH12450 AK301733 BAG63198 AK301764 BAG63224 AK310492 AL712362 BC172262 AAI72262 BC172565 AAI72565 BM686882 CR627391 CAH10486 DQ426859 ABD90529 U66691 U88667 AAC51144 NM_000350 NP_000341
|
| Function |
In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. {ECO:0000269|PubMed:10075733}.
|
| Subcellular Location |
Membrane {ECO:0000269|PubMed:10075733}; Multi-pass membrane protein {ECO:0000269|PubMed:10075733}. Note=Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.
|
| Tissue Specificity |
Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
|
| Top Pathways |
ABC transporters
|