Gene: RPGRIP1

Alternate names for this Gene: CORD13|LCA6|RGI1|RGRIP|RPGRIP|RPGRIP1d

Gene Summary: This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: RPGR interacting protein 1

Type of Gene: protein-coding

rs565837539 in RPGRIP1 gene and Abnormality of the eye PMID 24123792 2013 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

rs192003551 in RPGRIP1 gene and Cone-Rod Dystrophy 13 PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 11528500 2001 Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

rs1566674809 in RPGRIP1 gene and LEBER CONGENITAL AMAUROSIS 6 (disorder) PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PMID 11528500 2001 Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 24981858 2014 C2 domains as protein-protein interaction modules in the ciliary transition zone.

PMID 17306875 2007 Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

PMID 17554762 2007 Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

rs137853124 in RPGRIP1 gene and Leber Congenital Amaurosis PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.