Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

RPGRIP1

contributors: mct - updated : 26-11-2010

HGNC name	retinitis pigmentosa GTPase regulator interacting protein 1
HGNC id	13436

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LCA6 , DEL14QP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       involvement of disrupted interaction with NPHP4 in the retinal dystrophy of both SLSN4 and LCA6 patients

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of leber congenital amaurosis