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Gene Review

RP1L1  -  retinitis pigmentosa 1-like 1

Homo sapiens

Synonyms: DCDC4B, Retinitis pigmentosa 1-like 1 protein
 
 
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Disease relevance of RP1L1

  • We identified and characterised, both in human and in mouse, a novel mammalian gene, termed Retinitis Pigmentosa1-like1 (RP1L1), because of its significant sequence similarity to the RP1 gene product [1].
  • Additional experiments will be needed to determine if mutations in RP1L1 cause other forms of inherited retinal degeneration [2].
 

High impact information on RP1L1

  • The sequence homology between RP1 and RP1L1 was found to be mostly restricted to the DC domains and to the N-terminal region, including the first 350 amino acids [1].
  • Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations [1].
  • RESULTS: The human RP1L1 gene is encoded in 4 exons, which span 50 kb on chromosome 8p [2].
  • Expression of RP1L1 is limited to the retina and appears to be specific to photoreceptors [2].
 

Analytical, diagnostic and therapeutic context of RP1L1

References

  1. Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Conte, I., Lestingi, M., den Hollander, A., Alfano, G., Ziviello, C., Pugliese, M., Circolo, D., Caccioppoli, C., Ciccodicola, A., Banfi, S. Eur. J. Hum. Genet. (2003) [Pubmed]
  2. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Bowne, S.J., Daiger, S.P., Malone, K.A., Heckenlively, J.R., Kennan, A., Humphries, P., Hughbanks-Wheaton, D., Birch, D.G., Liu, Q., Pierce, E.A., Zuo, J., Huang, Q., Donovan, D.D., Sullivan, L.S. Mol. Vis. (2003) [Pubmed]
 
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