DISEASES

Disease-gene associations mined from literature

Literature associating RS1 and retinal disease

RS1 [ENSP00000369320]

X-linked juvenile retinoschisis protein; Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells. Required for normal structure and function of the retina.

Synonyms:  RS1,  RS1p,  hRS1,  O15537,  RS1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM