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ABSTRACT: Introduction
The human retina relies on a complex network of proteins, many of which exhibit intrinsic disorder and liquid-liquid phase separation (LLPS), enabling dynamic interactions for retinal function. Disruptions in these properties, along with missense mutations, have been linked to retinal diseases. This study aims to characterize and compare retinal proteins categorized by their expression specificity and tissue distribution using bioinformatics tools to explore relationships between intrinsic protein disorder, phase separation potential, and mutation pathogenicity.Methods
We analyzed retinal proteins classified by the Human Protein Atlas (HPA) into two major groups based on gene expression specificity (degree of unique retinal expression) and gene expression distr
SUBMITTER: Kim CK
PROVIDER: S-EPMC12278036 | biostudies-literature | 2025 Jul
REPOSITORIES: biostudies-literature