Ask about this productRelated genes to: PRPH2 antibody
- Gene:
- PRPH2 NIH gene
- Name:
- peripherin 2
- Previous symbol:
- RP7, RDS
- Synonyms:
- TSPAN22, rd2, CACD2
- Chromosome:
- 6p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 1990-03-06
- Date modifiied:
- 2016-06-01
Related products to: PRPH2 antibody
Related articles to: PRPH2 antibody
- The purpose of this study was to characterize the clinical features, electrophysiology, and variant spectrum in ABCA4- and PRPH2-retinopathies and to identify novel electrodiagnostic biomarkers to differentiate between these two genotypes. - Source: PubMed
Heath Jeffery Rachael CThompson Jennifer ALo JohnnyVincent Andrea LPatil MinalBianco LorenzoBattaglia Parodi MaurizioZiccardi LuciaDell'Aquila CarmenBarbano LucillaTang Wei ChaoChan Choi MunBoon Camiel J FHensman JonathanChen Ta-ChingLin Chien-YuChen Pei-LungVincent AjoyTumber AnupreetHeon EliseGrigg John RJamieson Robyn VCornish Elisa ENash Benjamin MChou JeremyLamey Tina MMcLenachan SamuelRoshandel DanialFujinami KaoruChelva EnidMcLaren Terri LChen Fred K - To characterize the phenotypic heterogeneity associated with a probable founder variant in the PRPH2 gene, in a Cook Island cohort presenting with variable retinal phenotypes. - Source: PubMed
Publication date: 2026/03/30
Patil MinalVincent Andrea L - Retinitis pigmentosa (RP) is an inherited heterogeneous neurodegenerative retinal disease leading to blindness eventually. Currently, a large number of studies have explored its heterogeneity, but the genotype-phenotype correlation remains unclear. The present study aimed to explore genetic mutations and the correlation between genotype-phenotype in three RP families from the Chinese Han population. - Source: PubMed
Publication date: 2025/09/28
Liu JianingHan MengmengZhang XiaoLi MiaomiaoLiu ShiguoJiang Nan - Human prominin-1 (PROM1) is broadly expressed across multiple tissues. However, its pathogenic variants cause an exclusive retina-related disorder, PROM1-associated inherited retinal dystrophy (PROM1-IRD). The mechanistic basis underlying this tissue-specific vulnerability remains unclear, and no approved targeted therapy is available. Here, we used urine cells, human induced pluripotent stem cells (hiPSCs), hiPSC-retinal pigment epithelial cells, retinal organoids (ROs), and Prom1 mice to address these challenges. During photoreceptor differentiation in ROs, PROM1 localized to the apical ciliary compartment and the outer segment (OS)-like structures, co-localizing with ARL13B and PRPH2, and displayed photoreceptor-enriched mRNA splicing isoforms and distinct N-glycosylation patterns. In models derived from an IRD patient harboring a homozygous PROM1 c.619G>T (p.E207×) mutation, PROM1 transcripts underwent both nonsense-mediated mRNA decay and nonsense-associated altered splicing, resulting in complete loss of PROM1 protein and severe disruption of OS-like structures. To restore PROM1 function, a photoreceptor-targeted AAV7m8-CRXp-hPROM1 vector was developed, which efficiently restored PROM1 expression and rescued OS-like structures in patient-derived ROs. In vivo, subretinal delivery of AAV8-CRXp-hPROM1 to Prom1 mice produced sustained, photoreceptor-targeted expression of human PROM1, significantly preserving OS morphology and improving visual function. Collectively, these findings implicate a molecular basis for retinal vulnerability to PROM1 variants and provide compelling preclinical evidence supporting adeno-associated-virus-mediated gene augmentation as a therapeutic approach for PROM1-IRD. - Source: PubMed
Publication date: 2026/02/27
Xu PingGuo FuyingWang YuanChen GuifuSong XiaojingLuo Bella YZheng DandanGao GuanjieYin WenjingZhang SuaiLahn Bruce TZhong Xiufeng - Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of usually progressive retinal disorders that frequently lead to severe vision loss. The treatment options for these mostly monogenetic diseases are currently limited. As various treatment innovations are in the phase of clinical development, comprehensive clinical and genetic diagnostics are crucial. - Source: PubMed
Publication date: 2026/01/28
Sassen Sandrine HKochs Constanze LSaßmannshausen MarleneBirtel JohannesMauschitz Matthias MHolz Frank GHerrmann Philipp