REEP1 explained

Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.^{[1] [2] [3]}

Clinical significance

Mutations in REEP1 are known to cause the following conditions:^[4]

• Spastic paraplegia 31, autosomal dominant (SPG31);
• Neuronopathy, distal hereditary motor, 5B (HMN5B);
• Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6).

Further reading

• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Ballif BA, Villén J, Beausoleil SA, etal . Phosphoproteomic analysis of the developing mouse brain. . Mol. Cell. Proteomics . 3 . 11 . 1093–101 . 2005 . 15345747 . 10.1074/mcp.M400085-MCP200 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Hillier LW, Graves TA, Fulton RS, etal . Generation and annotation of the DNA sequences of human chromosomes 2 and 4. . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . 2005Natur.434..724H . free .
• Behrens M, Bartelt J, Reichling C, etal . Members of RTP and REEP gene families influence functional bitter taste receptor expression. . J. Biol. Chem. . 281 . 29 . 20650–9 . 2006 . 16720576 . 10.1074/jbc.M513637200 . free .
• Züchner S, Wang G, Tran-Viet KN, etal . Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. . Am. J. Hum. Genet. . 79 . 2 . 365–9 . 2006 . 16826527 . 10.1086/505361 . 1559498 .

Notes and References

1. Clark AJ, Metherell LA, Cheetham ME, Huebner A . Inherited ACTH insensitivity illuminates the mechanisms of ACTH action . Trends Endocrinol Metab . 16 . 10 . 451–7 . Nov 2005 . 16271481 . 10.1016/j.tem.2005.10.006 . 27450434 .
2. Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H . RTP family members induce functional expression of mammalian odorant receptors . Cell . 119 . 5 . 679–91 . Nov 2004 . 15550249 . 10.1016/j.cell.2004.11.021 . 13555927 . free .
3. Web site: Entrez Gene: REEP1 receptor accessory protein 1.
4. Web site: UniProt . 2023-07-08 . www.uniprot.org.