Disease-gene associations mined from literature

Literature associating PRPH2 and congenital stationary night blindness

PRPH2 [ENSP00000230381]

Peripherin 2 (retinal degeneration, slow); May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis; Belongs to the PRPH2/ROM1 family.

Synonyms:  PRPH2,  PRPH2p,  hPRPH2,  P23942,  CACD2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM