Biology:REEP2
From HandWiki
Short description: Protein-coding gene in humans
 Generic protein structure example |
Receptor expression-enhancing protein 2 is a protein that in humans is encoded by the REEP2 gene.[1][2]
Function
The protein encoded by REEP2 belongs to a family of proteins with receptor enhancing expression capabilities, including possible enhancement of G protein-coupled receptors.[3] The REEP2 protein shows a restricted mode of expression in human tissues.[4]
Clinical significance
REEP2 mutations have been reported in families with hereditary spastic paraplegia.[5]
References
- ↑ Clark, Adrian J.L.; Metherell, Louise A.; Cheetham, Michael E.; Huebner, Angela (2005). "Inherited ACTH insensitivity illuminates the mechanisms of ACTH action". Trends in Endocrinology & Metabolism 16 (10): 451–457. doi:10.1016/j.tem.2005.10.006. PMID 16271481.
- ↑ Saito, Harumi; Kubota, Momoka; Roberts, Richard W.; Chi, Qiuyi; Matsunami, Hiroaki (2004). "RTP Family Members Induce Functional Expression of Mammalian Odorant Receptors". Cell 119 (5): 679–691. doi:10.1016/j.cell.2004.11.021. PMID 15550249.
- ↑ Björk, Susann; Hurt, Carl M.; Ho, Vincent K.; Angelotti, Timothy (2013-12-17). "Correction: REEPs Are Membrane Shaping Adapter Proteins That Modulate Specific G Protein-Coupled Receptor Trafficking by Affecting ER Cargo Capacity". PLOS ONE 8 (12): 10.1371/annotation/6f86410c-63c3-4fcd-b1cb-9fd8d2ea95d0. doi:10.1371/annotation/6f86410c-63c3-4fcd-b1cb-9fd8d2ea95d0. ISSN 1932-6203.
- ↑ Uhlén, Mathias; Fagerberg, Linn; Hallström, Björn M.; Lindskog, Cecilia; Oksvold, Per; Mardinoglu, Adil; Sivertsson, Åsa; Kampf, Caroline et al. (2015-01-23). "Tissue-based map of the human proteome" (in en). Science 347 (6220): 1260419. doi:10.1126/science.1260419. ISSN 0036-8075. PMID 25613900.
- ↑ Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, José L.; Boutry, Maxime; Gonzalez, Michael A.; Gauthier, Julie; El-Hachimi, Khalid H. et al. (2014). "Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia". The American Journal of Human Genetics 94 (2): 268–277. doi:10.1016/j.ajhg.2013.12.005. PMID 24388663.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry 236 (1): 107–13. April 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
- "Large-scale concatenation cDNA sequencing". Genome Research 7 (4): 353–8. April 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Transcript map and comparative analysis of the 1.5-Mb commonly deleted segment of human 5q31 in malignant myeloid diseases with a del(5q)". Genomics 71 (2): 235–45. January 2001. doi:10.1006/geno.2000.6414. PMID 11161817.
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