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Gene Review:

Abca4 - ATP-binding cassette, sub-family A (ABC1),...

Mus musculus

Synonyms: ATP-binding cassette sub-family A member 4, AW050280, Abc10, Abcr, D430003I15Rik, ...

Weng, J. et al., Illing, M. et al., Mata, N.L. et al., Azarian, S.M. et al.

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Abca4

The human gene for RmP (ABCR) is affected in several recessive retinal degenerations [1].
These data suggest that humans with retinal or macular degeneration caused by loss of RmP function may slow progression of their disease by limiting exposure to light [2].

High impact information on Abca4

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice [1].
Rim protein (RmP) is an ABC transporter of unknown function in rod outer segment discs [1].
From these studies we conclude that the 220-kDa glycoprotein of bovine rod outer segment disc membranes or Rim ABC protein is a new member of the superfamily of ABC transporters and is the mammalian homolog of the frog photoreceptor rim protein [3].

Associations of Abca4 with chemical compounds

Rim protein (RmP) is a high-Mr membrane glycoprotein that has been localized to the rims of photoreceptor outer segment discs, but its molecular identity is unknown [4].

References

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Weng, J., Mata, N.L., Azarian, S.M., Tzekov, R.T., Birch, D.G., Travis, G.H. Cell (1999) [Pubmed]
Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Mata, N.L., Weng, J., Travis, G.H. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. Illing, M., Molday, L.L., Molday, R.S. J. Biol. Chem. (1997) [Pubmed]
The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). Azarian, S.M., Travis, G.H. FEBS Lett. (1997) [Pubmed]

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