Sequence Detail

ID/Version

O35600 (UniProt | EBI)

Last sequence update: 1998-01-01
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=Retinal-specific phospholipid-transporting ATPase ABCA4 {ECO:0000250|UniProtKB:P78363}; EC=7.6.2.1 {ECO:0000250|UniProtKB:P78363};AltName: Full=ATP-binding cassette sub-family A member 4;AltName: Full=RIM ABC transporter; Sho

Provider

SWISS-PROT

Sequence

Polypeptide 2310 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Abca4	ATP-binding cassette, sub-family A member 4	43	100	4	18

Sequence references in MGI

J:48634 Azarian SM, et al., The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett. 1997 Jun 9;409(2):247-52
J:56317 Weng J, et al., Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell. 1999 Jul 9;98(1):13-23
J:62911 Mata NL, et al., Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc Natl Acad Sci U S A. 2000 Jun 20;97(13):7154-9
J:225104 Quazi F, et al., ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer. Nat Commun. 2012;3:925