REEP1
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene.{{cite journal | vauthors = Clark AJ, Metherell LA, Cheetham ME, Huebner A | title = Inherited ACTH insensitivity illuminates the mechanisms of ACTH action | journal = Trends Endocrinol Metab | volume = 16 | issue = 10 | pages = 451–7 |date=Nov 2005 | pmid = 16271481 | doi = 10.1016/j.tem.2005.10.006 | s2cid = 27450434 }}{{cite journal | vauthors = Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H | title = RTP family members induce functional expression of mammalian odorant receptors | journal = Cell | volume = 119 | issue = 5 | pages = 679–91 |date=Nov 2004 | pmid = 15550249 | doi = 10.1016/j.cell.2004.11.021 | s2cid = 13555927 | doi-access = free }}{{cite web | title = Entrez Gene: REEP1 receptor accessory protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65055}}
Clinical significance
Mutations in REEP1 are known to cause the following conditions:{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/Q9H902/entry#disease_variants |access-date=2023-07-08 |website=www.uniprot.org}}
- Spastic paraplegia 31, autosomal dominant (SPG31);
- Neuronopathy, distal hereditary motor, 5B (HMN5B);
- Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6).
References
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Further reading
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- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Ballif BA, Villén J, Beausoleil SA, etal |title=Phosphoproteomic analysis of the developing mouse brain. |journal=Mol. Cell. Proteomics |volume=3 |issue= 11 |pages= 1093–101 |year= 2005 |pmid= 15345747 |doi= 10.1074/mcp.M400085-MCP200 |doi-access= free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Hillier LW, Graves TA, Fulton RS, etal |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 |bibcode=2005Natur.434..724H |doi-access= free }}
- {{cite journal |vauthors=Behrens M, Bartelt J, Reichling C, etal |title=Members of RTP and REEP gene families influence functional bitter taste receptor expression. |journal=J. Biol. Chem. |volume=281 |issue= 29 |pages= 20650–9 |year= 2006 |pmid= 16720576 |doi= 10.1074/jbc.M513637200 |doi-access= free }}
- {{cite journal |vauthors=Züchner S, Wang G, Tran-Viet KN, etal |title=Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. |journal=Am. J. Hum. Genet. |volume=79 |issue= 2 |pages= 365–9 |year= 2006 |pmid= 16826527 |doi= 10.1086/505361 | pmc=1559498 }}
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