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Article

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.

Ophthalmic genetics - 1 Dec 2005

Koenekoop Robert K

Abstract excerpt

RPGRIP1 encodes the retinitis pigmentosa GTPase interacting protein 1 and interacts with RPGR, the latter represents the major X-linked RP (XRRP) gene, as it accounts for 70-80% of the XRRP patients and up to 13% of all RP patients. RPGRIP1 contains a C-terminal RPGR interacting domain (RID) and a coiled-coil (CC) domain, which is homologous to proteins involved in vesicular trafficking. The interactions between...

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Source

Identifiers

PMID: 16352478
DOI: 10.1080/13816810500374441

Genes

RPGRIP1
RPGR
RCC1
RHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.PMID 16352478Read ↗

Leber congenital amaurosis caused by mutations in RPGRIP1.Semantic proximity Read ↗

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A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.Semantic proximity Read ↗

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.Semantic proximity Read ↗

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.Semantic proximity Read ↗

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.Semantic proximity Read ↗

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Semantic proximity Read ↗

The Role of RPGR and Its Interacting Proteins in CiliopathiesSemantic proximity Read ↗

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Semantic proximity Read ↗

RPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapySemantic proximity Read ↗

RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.Semantic proximity Read ↗

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.Semantic proximity Read ↗

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