A2E translocates to RPE cells

Stable Identifier
R-HSA-2467738
Type
Reaction [transition]
Species
Homo sapiens
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Once photoreceptor outer segments are phagocytosed, inclusive of A2E, they are delivered to retinal pigment epithelial (RPE) cells for disposal. However, A2E has been shown to be resistant to any sort of degradative enzyme thus accumulates in the RPE. The relationship between lipofuscin accumulation and retinal degeneration is illustrated by Stargardt disease type 1 (STGD1, MIM:248200) (Allikmets et al. 1997).

Literature References
PubMed ID Title Journal Year
9054934 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Allikmets, R, Singh, N, Sun, H, Shroyer, NF, Hutchinson, A, Chidambaram, A, Gerrard, B, Baird, L, Stauffer, D, Peiffer, A, Rattner, A, Smallwood, P, Li, Y, Anderson, KL, Lewis, RA, Nathans, J, Leppert, M, Dean, M, Lupski, JR

Nat. Genet. 1997
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