Receptor expression-enhancing protein 6 (REEP6)

Receptor expression-enhancing protein 6 (REEP6) is a member of the REEP family of endoplasmic reticulum (ER)-resident accessory proteins that shape the membrane architecture of the ER and facilitate the trafficking and localization of specific membrane proteins, including guanylate cyclases essential for retinal phototransduction. REEP6 is localized to the inner segment and outer plexiform layer of rod photoreceptors in the retina. Loss of REEP6 function—via rare recessive mutations—leads to severe retinal degeneration (retinitis pigmentosa) in humans and mice, primarily through disruption of cGMP homeostasis and induction of ER stress, followed by photoreceptor cell death. REEP6 is not itself a classic receptor or enzyme but is essential for the stability, sorting, and homeostasis of other key photoreceptor proteins and organelles. There are no known direct drug interactions, and it is not presently considered a therapeutic target, but its genetic status serves as a biomarker for inherited retinal dystrophy[1][2][3].

Other names

REEP6C19orf32DP1L1FLJ25383Yip2fTB1RP77REEP6.1REEP6.2Polyposis locus protein 1-like 1Deleted in polyposis 1-like 1TB2L1

Null. No drugs reported.