Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

Eur J Hum Genet. 2002 Apr;10(4):245-9. doi: 10.1038/sj.ejhg.5200797.


The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14. We now report two different disease associated mutations in a previously unidentified human gene, the mouse orthologue of which has been characterised by its interaction with the Pim-1 oncogene. In the original linked family we identified the missense mutation H137L. A second missense mutation, D170G, was found in a single RP patient. The putative RP9 gene appears to be expressed in a wide range of tissues, but its function is unknown and a pathogenic mechanism remains to be determined.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Exons
  • Genes, Dominant*
  • Humans
  • Molecular Sequence Data
  • Mutation, Missense*
  • Polymorphism, Single-Stranded Conformational
  • Protein Serine-Threonine Kinases / metabolism*
  • Proteins / genetics*
  • Proteins / metabolism
  • Proto-Oncogene Proteins / metabolism*
  • Proto-Oncogene Proteins c-pim-1
  • RNA Splicing Factors
  • Retinitis Pigmentosa / genetics*
  • Sequence Analysis, DNA


  • Proteins
  • Proto-Oncogene Proteins
  • RNA Splicing Factors
  • RP9 protein, human
  • PIM1 protein, human
  • Protein Serine-Threonine Kinases
  • Proto-Oncogene Proteins c-pim-1

Associated data

  • GENBANK/AC007041
  • GENBANK/AF274938
  • GENBANK/AF315591
  • GENBANK/AI972605
  • GENBANK/G42103