ABCA4 transports NRPE from photoreceptor outer segment membrane to cytosol

Stable Identifier
R-HSA-2466749
Type
Reaction
Species
Homo sapiens
Compartment
Synonyms
NRPE is a substrate for ABCA4
Locations in the PathwayBrowser
Summation

Bovine studies (Beharry et al. 2004) have indicated NRPE to be the preferred substrate for ABCA4 (ABCR, rim protein, RmP) (Azarian et al. 1998), which acts as an inward-directed retinoid flippase and facilitates the transfer of NRPE to the cytoplasmic side of the disc membrane. This transfer is essential to avoid build up of potentially toxic retinoid intermediates which are implicated in many retinal degenerative diseases (see review Tsybovsky et al. 2010). Defective ABCA4 cannot perform this function leading to impaired vision and blindness disorders such as Stargardt disease (MIM:248200).

Literature References
PubMed ID Title Journal Year
9703434 The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis

Azarian, SM, Megarity, CF, Weng, J, Horvath, DH, Travis, GH

Hum. Genet. 1998
15471866 N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR)

Beharry, S, Zhong, M, Molday, RS

J. Biol. Chem. 2004
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
eye pigment precursor transporter activity of ABCA4 [photoreceptor disc membrane]
Physical Entity
Activity
Inferred From
Authored
Reviewed