Protein-coding gene in the species Homo sapiens
Receptor expression-enhancing protein 1 is a protein that in humans is encoded by the REEP1 gene .[5] [6] [7]
Clinical significance Mutations in REEP1 are known to cause the following conditions:[8]
Spastic paraplegia 31, autosomal dominant (SPG31);
Neuronopathy, distal hereditary motor, 5B (HMN5B);
Distal spinal muscular atrophy, autosomal recessive, 6 (DSMA6). References
^ a b c GRCh38: Ensembl release 89: ENSG00000068615 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052852 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Clark AJ, Metherell LA, Cheetham ME, Huebner A (Nov 2005). "Inherited ACTH insensitivity illuminates the mechanisms of ACTH action". Trends Endocrinol Metab . 16 (10): 451–7. doi :10.1016/j.tem.2005.10.006 . PMID 16271481 . S2CID 27450434 . ^ Saito H, Kubota M, Roberts RW, Chi Q, Matsunami H (Nov 2004). "RTP family members induce functional expression of mammalian odorant receptors" . Cell . 119 (5): 679–91. doi :10.1016/j.cell.2004.11.021 PMID 15550249 . S2CID 13555927 . ^ "Entrez Gene: REEP1 receptor accessory protein 1" .^ "UniProt" . www.uniprot.org . Retrieved 2023-07-08 .
Further reading
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Ballif BA, Villén J, Beausoleil SA, et al. (2005). "Phosphoproteomic analysis of the developing mouse brain" . Mol. Cell. Proteomics . 3 (11): 1093–101. doi :10.1074/mcp.M400085-MCP200 PMID 15345747 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4" . Nature . 434 (7034): 724–31. Bibcode :2005Natur.434..724H . doi :10.1038/nature03466 PMID 15815621 . Behrens M, Bartelt J, Reichling C, et al. (2006). "Members of RTP and REEP gene families influence functional bitter taste receptor expression" . J. Biol. Chem . 281 (29): 20650–9. doi :10.1074/jbc.M513637200 PMID 16720576 . Züchner S, Wang G, Tran-Viet KN, et al. (2006). "Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31" . Am. J. Hum. Genet . 79 (2): 365–9. doi :10.1086/505361 . PMC 1559498 PMID 16826527 .
This page was last edited on 8 July 2023, at 07:56
This page was last edited on 8 July 2023, at 07:56