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FLASH GENE

Symbol

RPGRIP1L

contributors: mct/npt - updated : 12-01-2017

HGNC name	RPGRIP1-like
HGNC id	29168

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

JBTS7 , MKS5 , NPHP8 , COACH3

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

ANIMAL & CELL MODELS

disrupting the Rpgrip1l gene in mice resulted in reduced proliferation and differentiation of follicular keratinocytes, leading to hair follicle developmental defects