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FLASH GENE
Symbol RPGRIP1L contributors: mct/npt - updated : 12-01-2017
HGNC name RPGRIP1-like
HGNC id 29168
ASSOCIATED DISORDERS
corresponding disease(s) JBTS7 , MKS5 , NPHP8 , COACH2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
causes an impairment of protein degradation and protein processing
Susceptibility
  • to development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes
  • to vascular dementia (VaD)
  • Variant & Polymorphism other
  • common variant, A229T significantly compromises the interaction with RPGRIP1 and cause retinal degeneration
  • association between RPGRIP1L gene and susceptibility of VaD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • disrupting the Rpgrip1l gene in mice resulted in reduced proliferation and differentiation of follicular keratinocytes, leading to hair follicle developmental defects