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URL of this page: https://medlineplus.gov/genetics/gene/rpgr/

RPGR gene

retinitis pigmentosa GTPase regulator

Normal Function

The RPGR gene provides instructions for making a protein that is essential for normal vision. Studies suggest that this protein plays an important role in cell structures called cilia. Cilia are finger-like projections that are found on the surface of cells. They have many different functions. Motile cilia are involved in cell movement, while non-motile or primary cilia are necessary for the perception of sensory input, including hearing, smell, and vision.

The specialized light receptor cells (photoreceptors) in the layer of light-sensitive tissue at the back of the eye (retina) are made up of an inner and outer segment. A single cilia (known as a connecting cilium) acts as a bridge between these segments that allows proteins to travel back and forth. Within the connecting cilium, the RPGR protein helps sort and transport other proteins along the cilium between the inner and outer segments of the photoreceptor cells. This transport of proteins is essential to maintain the structure and function of photoreceptor cells.

Health Conditions Related to Genetic Changes

Retinitis pigmentosa

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the RPGR gene can cause retinitis pigmentosa, which is characterized by vision loss that worsens over time. Retinitis pigmentosa affects the retina. RPGR gene variants account for 70 to 90 percent of all cases of retinitis pigmentosa with an X-linked pattern of inheritance. X-linked conditions are those that are caused by variants in genes on the X chromosome, which is one of the two sex chromosomes.

Most of the RPGR gene variants that are responsible for X-linked retinitis pigmentosa occur in the ORF15 exon segment of the RPGR protein. These pathogenic variants cause cells to make a version of the RPGR protein that does not function properly. As a result, the protein’s ability to interact with other molecules is impaired, which disrupts the transport of proteins within the photoreceptor cells. This leads to the gradual loss of photoreceptor cells and the resulting vision loss seen in people with retinitis pigmentosa.

More About This Health Condition

Cone-rod dystrophy

MedlinePlus Genetics provides information about Cone-rod dystrophy

More About This Health Condition

Primary ciliary dyskinesia

MedlinePlus Genetics provides information about Primary ciliary dyskinesia

More About This Health Condition

Other disorders

Rarely, pathogenic variants in the RPGR gene have been reported in people with retinitis pigmentosa who have signs and symptoms that affect parts of the body other than the eyes. Along with vision loss, affected individuals can have chronic sinus and respiratory infections, recurrent ear infections (otitis media), and hearing loss (deafness). This collection of features is sometimes called primary ciliary dyskinesia-retinitis pigmentosa syndrome or RPSRDF.

It is unclear why pathogenic variants in the RPGR gene cause a variety of disorders. Studies suggest that certain variants may disrupt the function of cilia in multiple tissues, including the inner ear and respiratory tract. Malfunctioning cilia in these tissues may lead to the hearing loss and respiratory abnormalities seen in some affected individuals. However, researchers are still working to determine exactly how RPGR gene variants lead to the specific abnormalities seen in people with the different disorders.

Other Names for This Gene

  • COD1
  • cone dystrophy 1 (X-linked)
  • CORDX1
  • CRD
  • retinitis pigmentosa 15
  • retinitis pigmentosa 3 GTPase regulator
  • RP15
  • RP3

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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  • Bujakowska KM, Liu Q, Pierce EA. Photoreceptor Cilia and Retinal Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Oct 3;9(10):a028274. doi: 10.1101/cshperspect.a028274. Citation on PubMed
  • Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541. Citation on PubMed
  • Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1417/ Citation on PubMed
  • Foote KG, Wong JJ, Boehm AE, Bensinger E, Porco TC, Roorda A, Duncan JL. Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):42. doi: 10.1167/iovs.61.4.42. Citation on PubMed
  • Fry AM, Leaper MJ, Bayliss R. The primary cilium: guardian of organ development and homeostasis. Organogenesis. 2014 Jan 1;10(1):62-8. doi: 10.4161/org.28910. Epub 2014 Apr 17. Citation on PubMed
  • Hwang S, Jeon S, Yoon JM, Woo SJ, Joo K, Choi YJ, Yoon CK, Kim M, Lee HJ, Byeon SH, Lee CS, Jeon J, Kim JY, Han J, Surl D, Sagong M, Jeong A, Park TK, Park HS, Kim M, Hong YJ, Jang JH, Jang MA, Kim SJ. Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa: Molecular Genetics and Clinical Characteristics. Am J Ophthalmol. 2025 Jun;274:171-183. doi: 10.1016/j.ajo.2025.03.001. Epub 2025 Mar 6. Citation on PubMed
  • Iannaccone A, Breuer DK, Wang XF, Kuo SF, Normando EM, Filippova E, Baldi A, Hiriyanna S, MacDonald CB, Baldi F, Cosgrove D, Morton CC, Swaroop A, Jablonski MM. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med Genet. 2003 Nov;40(11):e118. doi: 10.1136/jmg.40.11.e118. No abstract available. Citation on PubMed or Free article on PubMed Central
  • Lyraki R, Megaw R, Hurd T. Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. Biochem Soc Trans. 2016 Oct 15;44(5):1235-1244. doi: 10.1042/BST20160148. Citation on PubMed
  • May-Simera H, Nagel-Wolfrum K, Wolfrum U. Cilia - The sensory antennae in the eye. Prog Retin Eye Res. 2017 Sep;60:144-180. doi: 10.1016/j.preteyeres.2017.05.001. Epub 2017 May 11. Citation on PubMed
  • Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clement A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet. 2006 Apr;43(4):326-33. doi: 10.1136/jmg.2005.034868. Epub 2005 Jul 31. Citation on PubMed or Free article on PubMed Central
  • Murga-Zamalloa C, Swaroop A, Khanna H. Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_13. Citation on PubMed or Free article on PubMed Central
  • Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Citation on PubMed
  • Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF. RPGR mutation analysis and disease: an update. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Citation on PubMed
  • Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC. Clinical course of cone dystrophy caused by mutations in the RPGR gene. Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25. Citation on PubMed
  • Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000 Aug;25(4):462-6. doi: 10.1038/78182. Citation on PubMed
  • Yang Z, Peachey NS, Moshfeghi DM, Thirumalaichary S, Chorich L, Shugart YY, Fan K, Zhang K. Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet. 2002 Mar 1;11(5):605-11. doi: 10.1093/hmg/11.5.605. Citation on PubMed
  • Zhang Q, Giacalone JC, Searby C, Stone EM, Tucker BA, Sheffield VC. Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1353-1360. doi: 10.1073/pnas.1817639116. Epub 2019 Jan 8. Citation on PubMed
  • Zito I, Downes SM, Patel RJ, Cheetham ME, Ebenezer ND, Jenkins SA, Bhattacharya SS, Webster AR, Holder GE, Bird AC, Bamiou DE, Hardcastle AJ. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet. 2003 Aug;40(8):609-15. doi: 10.1136/jmg.40.8.609. No abstract available. Citation on PubMed or Free article on PubMed Central

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