DISEASES

Disease-gene associations mined from literature

Literature associating RGS9BP and enhanced S-cone syndrome

RGS9BP [ENSP00000334134]

Regulator of G protein signaling 9 binding protein; Regulator of G protein-coupled receptor (GPCR) signaling in phototransduction. Participates in the recovery phase of visual transduction via its interaction with RGS9-1 isoform. Acts as a membrane-anchor that mediates the targeting of RGS9-1 to the photoreceptor outer segment, where phototransduction takes place. Enhances the ability of RGS9-1 to stimulate G protein GTPase activity, allowing the visual signal to be terminated on the physiologically time scale. It also controls the proteolytic stability of RGS9-1, probably by protecting it from degradation (By similarity); Belongs to the RGS7BP/RGS9BP family.

Synonyms:  RGS9BP,  RGS9BPp,  hRGS9BP,  Q6ZS82,  Q6ZS82p ...

Linkouts:  STRING  Pharos  UniProt  OMIM