ROM1 explained

Rod outer segment membrane protein 1 is a protein that in humans is encoded by the ROM1 gene.^{[1] [2]}

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.

Further reading

• Wang Q . Update on the molecular genetics of retinitis pigmentosa . Ophthalmic Genet. . 22 . 3 . 133–154 . 2001 . 11559856 . 10.1076/opge.22.3.133.2224 . vanc. Chen Q . Zhao K . 3 . Wang . Li . Wang . Lejin . Traboulsi . Elias I. . 24004113 .
• Stone EM . Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 . Nat. Genet. . 1 . 4 . 246–250 . 1993 . 1302019 . 10.1038/ng0792-246 . vanc. Nichols BE . Streb LM . 3 . Kimura . Alan E. . Sheffield . Val C. . 23186865 .
• Bascom RA . 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 . 1992 . 1415249 . 1682851 . vanc. García-Heras J . Hsieh CL . 3 . Gerhard . DS . Jones . C . Francke . U . Willard . HF . Ledbetter . DH . McInnes . RR .
• Bascom RA . 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 . 1992 . 1610568 . 10.1016/0896-6273(92)90137-3 . vanc. Manara S . Collins L . 3 . Molday . Robert S. . Kalnins . Vitauts I. . McLnnes . Roderick R. . 22740209 .
• Bascom RA . Polymorphisms and rare sequence variants at the ROM1 locus . Hum. Mol. Genet. . 2 . 11 . 1975–1977 . 1994 . 7904211 . 10.1093/hmg/2.11.1975 . vanc. Liu L . Humphries P . 3 . Fishman . Gerald A. . Murray . Jeffrey C. . McInnes . Roderick R. .
• Kajiwara K, Berson EL, Dryja TP . Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci . Science . 264 . 5165 . 1604–1608 . 1994 . 8202715 . 10.1126/science.8202715 . 1994Sci...264.1604K .
• Bascom RA . Mutation analysis of the ROM1 gene in retinitis pigmentosa . Hum. Mol. Genet. . 4 . 10 . 1895–1902 . 1996 . 8595413 . 10.1093/hmg/4.10.1895 . vanc. Liu L . Heckenlively JR . 3 . Stone . Edwin M. . McInnes . Roderick R. .
• Courseaux A . 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 . 1997 . 8938448 . 10.1006/geno.1996.0570. vanc. Grosgeorge J . Gaudray P . 3 . Pannett . AA . Forbes . SA . Williamson . C . Bassett . D . Thakker . RV . Teh . BT .
• Dryja TP, Hahn LB, Kajiwara K, Berson EL . Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa . Invest. Ophthalmol. Vis. Sci. . 38 . 10 . 1972–82 . 1997 . 9331261 .
• Loewen CJ, Molday RS . 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 . 2000 . 10681511 . 10.1074/jbc.275.8.5370 . free .
• Poetsch A, Molday LL, Molday RS . 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 . 2002 . 11641407 . 10.1074/jbc.M108941200 . free .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–2127 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Taylor TD . Human chromosome 11 DNA sequence and analysis including novel gene identification . Nature . 440 . 7083 . 497–500 . 2006 . 16554811 . 10.1038/nature04632 . vanc. Noguchi H . Totoki Y . 3 . Toyoda . Atsushi . Kuroki . Yoko . Dewar . Ken . Lloyd . Christine . Itoh . Takehiko . Takeda . Tadayuki . 2006Natur.440..497T . free .

Notes and References

1. Bascom RA, Schappert K, McInnes RR . Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation . Hum Mol Genet . 2 . 4 . 385–391 . Jul 1993 . 8504299 . 10.1093/hmg/2.4.385 .
2. Web site: Entrez Gene: ROM1 retinal outer segment membrane protein 1.