Ontology highlight
ABSTRACT:
SUBMITTER: Sikkink SK
PROVIDER: S-EPMC2598044 | biostudies-literature | 2007 Apr
REPOSITORIES: biostudies-literature
Sikkink Stephen K SK Biswas Susmito S Parry Neil R A NR Stanga Paulo E PE Trump Dorothy D
Journal of medical genetics 20061215 4
X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secretory retinal protein, retinoschisin. Retinoschisin octamerisation is implicated in cell-cell interactions and cell adhesion perhaps by interacting with beta2 laminin. Mutations cause lo ...[more]