DISEASES

Disease-gene associations mined from literature

Literature associating LRIT3 and congenital stationary night blindness 1B

LRIT3 [ENSP00000469759]

Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3; Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (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; I-set domain containing

Synonyms:  LRIT3,  LRIT3p,  hLRIT3,  Q3SXY7,  Q3SXY7p ...

Linkouts:  STRING  Pharos  UniProt