Symbol
| RPGRIP1L
| contributors: mct/npt - updated : 12-01-2017
|
HGNC name
| RPGRIP1-like
|
HGNC id
| 29168
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
| | | |
| disrupting the Rpgrip1l gene in mice resulted in reduced proliferation and differentiation of follicular keratinocytes, leading to hair follicle developmental defects |