DISEASES

Disease-gene associations mined from literature

Literature on REEP6

REEP6 [ENSP00000233596]

Receptor expression-enhancing protein 6; Required for correct function and survival of retinal photoreceptors . Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity).

Synonyms:  REEP6,  REEP6p,  hREEP6,  A0A1L5BXV2,  A8MWX0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM