DISEASES

Disease-gene associations mined from literature

Literature associating LRIT3 and night blindness

LRIT3 [ENSP00000469759]

Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3; Plays a role in the synapse formation and synaptic transmission between cone photoreceptor cells and retinal bipolar cells (By similarity). Required for normal transmission of a light-evoked stimulus from the cone photoreceptor cells to the ON-bipolar cells and ON-ganglion cells in the inner retina . Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). Seems to play a specific role in synaptic contacts made by ON-bipolar cells with cone photoreceptor pedicles (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi . Could be a regulator of the FGFRs .

Synonyms:  LRIT3,  LRIT3p,  hLRIT3,  A0A0A0MR64,  Q3SXY7 ...

Linkouts:  STRING  Pharos  UniProt