Disease-gene associations mined from literature

Literature associating PRPH2 and congenital stationary night blindness

PRPH2 [ENSP00000230381]

Peripherin-2; Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity). ; Belongs to the PRPH2/ROM1 family.

Synonyms:  PRPH2,  PRPH2p,  hPRPH2,  P23942,  P23942p ...

Linkouts:  STRING  Pharos  UniProt  OMIM