PRPH2
MIM.179605 6p21.1-cen
Definition: PRPH2 and ROM1 are tetraspanning membrane proteins that assemble into noncovalent tetramers and higher order disulfide-linked oligomers and are involved in photoreceptor disc morphogenesis.
Pathology
germline mutations in
- autosomal dominant retinitis pigmentosa locus 7 (RP7) (MIM.608133)
- retinitis punctata albescens (MIM.136880)
- macular dystrophy
- adult vitelliform macular dystrophy (MIM.608161)
- butterfly dystrophy of the retinal pigment epithelium (MIM.169150)
- retinitis pigmentosa with bull’s-eye maculopathy (MIM.153870)
- adult-onset vitelliform macular dystrophy (AVMD) (MIM.608161)
- patterned dystrophy of the retina (MIM.169150)
- fundus flavimaculatus (MIM.248200)
See also
PRPHs
- PRPH1