peripherin 2
Ultimo aggiornamento 8 maggio 2023
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L PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors that detect light and colour. Within these cells, peripherin 2 is involved in the formation and stability of structures that contain light-sensing pigments.
Normal function
L PRPH2 gene (also known as RDS) provides instructions for making a protein called peripherin 2. This protein plays an important role in normal vision. Peripherin 2 is found in the retina, the light-sensitive tissue that lines the back of the eye. This protein is essential for the normal function of specialized cells called photoreceptors that detect light and colour. Within these cells, peripherin 2 is involved in the formation and stability of structures that contain light-sensing pigments.
Conditions referring to this gene or chromosome
Altri nomi
CACD2
peripherin 2 (retinal degeneration, slow)
peripherin 2, homolog of mouse
peripherin, photoreceptor type
PRPH2_HUMAN
RDS
retinal degeneration slow protein
retinal degeneration, slow
Tetraspanin-22
TSPAN22
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Ulteriori letture e riferimenti
- peripherin 2; MedlinePlus, National Library of Medicine.
- Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008 Mar;27(2):213-35. doi: 10.1016/j.preteyeres.2008.01.002. Epub 2008 Jan 26.
- Chung M, Lotery AJ. Genetics update of macular diseases. Ophthalmol Clin North Am. 2002 Dec;15(4):459-65. doi: 10.1016/s0896-1549(02)00045-7.
- Felbor U, Schilling H, Weber BH. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997;10(4):301-9. doi: 10.1002/(SICI)1098-1004(1997)10:43.0.CO;2-J.
- Francis PJ, Schultz DW, Gregory AM, Schain MB, Barra R, Majewski J, Ott J, Acott T, Weleber RG, Klein ML. Genetic and phenotypic heterogeneity in pattern dystrophy. Br J Ophthalmol. 2005 Sep;89(9):1115-9. doi: 10.1136/bjo.2004.062695.
- Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology. 2005 Sep;112(9):1592-8. doi: 10.1016/j.ophtha.2005.04.004.
- Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:13.0.CO;2-K.
- Wang Q, Chen Q, Zhao K, Wang L, Wang L, Traboulsi EI. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001 Sep;22(3):133-54. doi: 10.1076/opge.22.3.133.2224.
- Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213-8. doi: 10.1038/ng0393-213.
- Yang Z, Li Y, Jiang L, Karan G, Moshfeghi D, O'Connor S, Li X, Yu Z, Lewis H, Zack D, Jacobson S, Zhang K. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Ophthalmic Genet. 2004 Jun;25(2):133-45. doi: 10.1080/13816810490514388.
- Yang Z, Lin W, Moshfeghi DM, Thirumalaichary S, Li X, Jiang L, Zhang H, Zhang S, Kaiser PK, Traboulsi EI, Zhang K. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy. Am J Ophthalmol. 2003 Feb;135(2):213-8. doi: 10.1016/s0002-9394(02)01815-9.
- Zhang K, Garibaldi DC, Li Y, Green WR, Zack DJ. Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report. Arch Ophthalmol. 2002 Apr;120(4):485-90. doi: 10.1001/archopht.120.4.485.
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