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GENATLAS PHENOTYPE
last update : 7/09/2006
Symbol RP2
Location Xp11.3
Name retinitis pigmentosa 2
Corresponding gene RP2
related resource Retinal Information Network
Other symbol(s) XLRP
Main clinical features
  • commencing in the first decade and leading to profound visual impairment before the age of 30 years, putatively due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death
    • Genetic determination sex linked
    chromosomal
    Function/system disorder eye
    Type disease
    Gene product
    Name protein with a cofactor C homologous domain
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein mislocalization, protein truncation mutations in 2/3 of pathogenic alleles
      deletion   familial contiguous gene deletions of 1 and 1.2 Mb with an association of RP and mental retardation in males (Zhang,06)
    Remark(s)