retinal-specific ATP-binding cassette transporter; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Stargardt disease protein (ABCA4 ABCR)
Jump to navigation
Jump to search
Function
- may play a role in photoresponse
- retinoids, & most likely retinal, are natural substrates for transport by ABCR in rod outer segments
- may act in the visual cycle to flip PE-all-trans-retinal adducts from the lumenal to the cytosolic face of the disk membrane, move free all-trans-retinal from the lipid phase of the disk membrane to a juxtamembrane location, or possibly reorient all-trans-retinal in the bilayer
Structure
- belongs to the ABC transporter family, ABCA subfamily contains 2 ABC transporter domains
Compartment
membrane
Expression
- retinal-specific
- exclusively found in rims of rod photoreceptor cells
Pathology
- defects in ABCA4 are the cause of
Polymorphism
- variant Ala-863 is present in the general population at a frequency of ~3% in Northern Europe & ~1% in United States
- mild alteration probably leading to Stargardt disease phenotype only in combination with a more severe allele
- the variant Glu-1961 is found in high frequency in healthy individuals of Somali ancestry
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P78363.html
- ↑ Mutations of the ABCA4 gene Retina International's Scientific Newsletter http://www.retina-international.com/sci-news/abcrmut.htm
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABCA4
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:24
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=24
- OMIM: https://mirror.omim.org/entry/153800
- OMIM: https://mirror.omim.org/entry/248200
- OMIM: https://mirror.omim.org/entry/601691
- OMIM: https://mirror.omim.org/entry/601718
- OMIM: https://mirror.omim.org/entry/604116
- UniProt: http://www.uniprot.org/uniprot/P78363.html