Gene Symbol: Reep6
Description: receptor accessory protein 6
Alias: Dp1l1, receptor expression-enhancing protein 6, deleted in polyposis 1-like 1, polyposis locus protein 1-like 1
Sato H, Tomita H, Nakazawa T, Wakana S, Tamai M. Deleted in polyposis 1-like 1 gene (Dp1l1): a novel gene richly expressed in retinal ganglion cells. Invest Ophthalmol Vis Sci. 2005;46:791-6 pubmed
To characterize a novel gene, deleted in polyposis 1-like 1 (Dp1l1), which is expressed in the retina...
Björk S, Hurt C, Ho V, Angelotti T. REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity. PLoS ONE. 2013;8:e76366 pubmed publisher
..By utilizing several REEP family members (REEP1, REEP2, and REEP6) and model GPCRs (?2A and ?2C adrenergic receptors), we examined REEP regulation of GPCR plasma membrane ..
Hao H, Veleri S, Sun B, Kim D, Keeley P, Kim J, et al
. Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL. Hum Mol Genet. 2014;23:4260-71 pubmed publisher
..Among the highly down-regulated genes in the Nrl(-/-) retina, we identified receptor expression enhancing protein 6 (Reep6), which encodes a member of a family of proteins involved in shaping of membrane tubules ..
Arno G, Agrawal S, Eblimit A, Bellingham J, Xu M, Wang F, et al
. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016;99:1305-1315 pubmed publisher
..Here we report the identification of biallelic mutations in Receptor Expression Enhancer Protein 6 (REEP6) in seven individuals with autosomal-recessive RP from five unrelated families...