Gene Symbol: REEP6
Description: receptor accessory protein 6
Alias: C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB2L1, Yip2f, receptor expression-enhancing protein 6, deleted in polyposis 1-like 1, polyposis locus protein 1-like 1
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 (α2A and α2C 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 ..
Zaneveld S, Eblimit A, Liang Q, Bertrand R, Wu N, Liu H, et al
. Gene Therapy Rescues Retinal Degeneration in <i>Reep6 </i>Mutant Mice. Hum Gene Ther. 2018;: pubmed publisher
..Previously, we identified mutations in the gene encoding Receptor Expression Enhancing Protein 6 (REEP6), in multiple families with autosomal recessive retinitis pigmentosa (RP), the most common ..
Agrawal S, Burgoyne T, Eblimit A, Bellingham J, Parfitt D, Lane A, et al
. REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. Hum Mol Genet. 2017;26:2667-2677 pubmed publisher
..We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with autosomal recessive RP...
Clark A, Metherell L, Cheetham M, Huebner A. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab. 2005;16:451-7 pubmed
..Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways. ..
Wellmann A, Fogt F, Hollerbach S, Hahne J, Koenig Hoffmann K, Smeets D, et al
. Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease. J Cancer Res Clin Oncol. 2010;136:795-802 pubmed publisher
The deleted-in-polyposis1-like1 (DP1L1) gene displays pro-apoptotic activity and was proposed to be a tumor suppressor. It locates on chromosome 19p13.3, which harbors the locus for Peutz-Jeghers-Syndrome and is deleted in various tumors...
Veleri S, Nellissery J, Mishra B, Manjunath S, Brooks M, Dong L, et al
. REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival. Hum Mol Genet. 2017;26:2218-2230 pubmed publisher
..Here we show that loss of REEP6 in mice (Reep6-/-) results in progressive retinal degeneration...
Méjécase C, Mohand Said S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, et al
. A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case. Clin Genet. 2017;: pubmed publisher
..A novel nonsense variant, c.267G>A p.(Trp89*), was identified at a homozygous state in the proband in REEP6 gene, recently reported mutated in seven unrelated families with RCD...
Saito H, Kubota M, Roberts R, Chi Q, Matsunami H. RTP family members induce functional expression of mammalian odorant receptors. Cell. 2004;119:679-91 pubmed
..We have used this approach to identify active odorant ligands for ORs, providing a platform for screening the chemical selectivity of the large OR family. ..