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Article

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.

Human molecular genetics - 15 Oct 2018

Zulliger Rahel, Conley Shannon M, Mwoyosvi Maggie L, Al-Ubaidi Muayyad R, Naash Muna I

Abstract excerpt

Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD). Understanding why some Prph2 mutants affect rods while others affect cones remains a critical unanswered question. Prph2 is essential for OS structure and function and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29961824
DOI: 10.1093/hmg/ddy240
PMCID: PMC6168975

Genes

PRPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.PMID 29961824Read ↗

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases.Semantic proximity Read ↗

ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.Semantic proximity Read ↗

Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.Semantic proximity Read ↗

Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.Semantic proximity Read ↗

PRPH2/RDS and ROM-1: Historical context, current views and future considerations.Semantic proximity Read ↗

The Role of Peripherin-2/ROM1 Complexes in Photoreceptor Outer Segment Disc Morphogenesis.Semantic proximity Read ↗

A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.Semantic proximity Read ↗

Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.Semantic proximity Read ↗

Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization.Semantic proximity Read ↗

ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.Semantic proximity Read ↗

Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants.Semantic proximity Read ↗

Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.Semantic proximity Read ↗

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