Target intelligence / Profile preview

Retinoschisin 1 (RS1)

Target
RS1
Molecular classification
Extracellular matrix protein, Adhesion molecule
01

Overview

Retinoschisin 1 (RS1) is a secreted extracellular protein primarily expressed in the retina by photoreceptors and bipolar cells. It functions as an adhesion molecule crucial for maintaining the structural integrity and cytoarchitecture of the retina. RS1 forms a homo-oligomeric complex that mediates cell-cell interactions and influences ion channel activity. Mutations in RS1 cause X-linked juvenile retinoschisis (XLRS), a hereditary eye disease characterized by retinal splitting and progressive vision loss.

Other names
retinoschisinX-linked juvenile retinoschisis proteinXLRS1XLRS1_HUMAN
02

Biological functions

Cell-cell adhesionMaintenance of retinal structureModulation of ion channelsRegulation of fluid balance
03

Disease associations

X-linked juvenile retinoschisis
04

Safety considerations

Potential immunogenicity of gene therapyLong-term efficacy of gene therapy uncertain

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