| ROM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ROM1, ROM, ROSP1, RP7, TSPAN23, retinal outer segment membrane protein 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 180721 MGI: 97998 HomoloGene: 276 GeneCards: ROM1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.[5][6]
This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor protein, peripherin-2 (PRPH2; retinal degeneration, slow; RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa.[6]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000149489 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000071648 - 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.
- ↑ Bascom RA, Schappert K, McInnes RR (Jul 1993). "Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation". Hum Mol Genet. 2 (4): 385–391. doi:10.1093/hmg/2.4.385. PMID 8504299.
- 1 2 "Entrez Gene: ROM1 retinal outer segment membrane protein 1".
Further reading
- Wang Q, Chen Q, Zhao K, et al. (2001). "Update on the molecular genetics of retinitis pigmentosa". Ophthalmic Genet. 22 (3): 133–154. doi:10.1076/opge.22.3.133.2224. PMID 11559856. S2CID 24004113.
- Stone EM, Nichols BE, Streb LM, et al. (1993). "Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13". Nat. Genet. 1 (4): 246–250. doi:10.1038/ng0792-246. PMID 1302019. S2CID 23186865.
- Bascom RA, García-Heras J, Hsieh CL, et al. (1992). "Localization of the photoreceptor gene ROM1 to human chromosome 11 and mouse chromosome 19: sublocalization to human 11q13 between PGA and PYGM". Am. J. Hum. Genet. 51 (5): 1028–35. PMC 1682851. PMID 1415249.
- Bascom RA, Manara S, Collins L, et al. (1992). "Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies". Neuron. 8 (6): 1171–1184. doi:10.1016/0896-6273(92)90137-3. PMID 1610568. S2CID 22740209.
- Bascom RA, Liu L, Humphries P, et al. (1994). "Polymorphisms and rare sequence variants at the ROM1 locus". Hum. Mol. Genet. 2 (11): 1975–1977. doi:10.1093/hmg/2.11.1975. PMID 7904211.
- Kajiwara K, Berson EL, Dryja TP (1994). "Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci". Science. 264 (5165): 1604–1608. Bibcode:1994Sci...264.1604K. doi:10.1126/science.8202715. PMID 8202715.
- Bascom RA, Liu L, Heckenlively JR, et al. (1996). "Mutation analysis of the ROM1 gene in retinitis pigmentosa". Hum. Mol. Genet. 4 (10): 1895–1902. doi:10.1093/hmg/4.10.1895. PMID 8595413.
- Courseaux A, Grosgeorge J, Gaudray P, et al. (1997). "Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1)". Genomics. 37 (3): 354–65. doi:10.1006/geno.1996.0570. PMID 8938448.
- Dryja TP, Hahn LB, Kajiwara K, Berson EL (1997). "Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa". Invest. Ophthalmol. Vis. Sci. 38 (10): 1972–82. PMID 9331261.
- Loewen CJ, Molday RS (2000). "Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration". J. Biol. Chem. 275 (8): 5370–5378. doi:10.1074/jbc.275.8.5370. PMID 10681511.
- Poetsch A, Molday LL, Molday RS (2002). "The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes". J. Biol. Chem. 276 (51): 48009–16. doi:10.1074/jbc.M108941200. PMID 11641407.
- 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): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Taylor TD, Noguchi H, Totoki Y, et al. (2006). "Human chromosome 11 DNA sequence and analysis including novel gene identification". Nature. 440 (7083): 497–500. Bibcode:2006Natur.440..497T. doi:10.1038/nature04632. PMID 16554811.
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