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MERTK

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Retinal Dystrophy Gene Atlas

Abstract

MERTK encodes the widely-expressed tyrosine-protein kinase Mer, which is a receptor tyrosine kinase involved in a signal transduction pathway that regulates numerous cellular processes. In the retina, it is expressed in the RPE and plays a role in the phagocytosis of rod outer segments. Autosomal recessive mutations in MERTK cause retinitis pigmentosa (rod-cone dystrophy) [1–4].

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References

  1. Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, et al. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet. 2000;26(3):270–1.

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Zahid, S. et al. (2018). MERTK . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_46

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_46

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

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