Skip to main content

PROM1

  • Chapter
  • First Online:
Retinal Dystrophy Gene Atlas

Abstract

PROM1 encodes prominin-1, a membrane protein involved in disk morphogenesis. Mutations in PROM1 cause autosomal dominant macular dystrophy, autosomal recessive or dominant retinitis pigmentosa (RP), or recessive cone-rod dystrophy [1–3].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

References

  1. Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, et al. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet. 2007;122(3–4):293–9.

    Article  CAS  PubMed  Google Scholar 

  2. Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, et al. Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. Mol Vis. 2009;15:1709–16.

    PubMed  PubMed Central  CAS  Google Scholar 

  3. Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, et al. Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008;118(8):2908–16.

    PubMed  PubMed Central  CAS  Google Scholar 

  4. Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, et al. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Invest Ophthalmol Vis Sci. 2010;51(9):4771–80.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Maw MA, Corbeil D, Koch J, Hellwig A, Wilson-Wheeler JC, Bridges RJ, et al. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum Mol Genet. 2000;9(1):27–34.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG, part of Springer Nature

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Zahid, S. et al. (2018). PROM1 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_60

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-10867-4_60

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics