Aliases for LRIT3 Gene
- Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3 2 3 5
- Leucine-Rich Repeat, Immunoglobulin-Like Domain And Transmembrane Domain-Containing Protein 3 3 4
- Fibronectin Type III, Immunoglobulin And Leucine Rich Repeat Domains 4 2 3
- FIGLER4 2 3
- CSNB1F 2 3
- Leucine-Rich Repeat, Immunoglobulin-Like And Transmembrane Domains 3 3
- FLJ44691 2
- LRIT3 5
External Ids for LRIT3 Gene
Previous GeneCards Identifiers for LRIT3 Gene
This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]
GeneCards Summary for LRIT3 Gene
LRIT3 (Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3) is a Protein Coding gene. Diseases associated with LRIT3 include Night Blindness, Congenital Stationary, Type 1F and Congenital Stationary Night Blindness. An important paralog of this gene is LRIT1.
UniProtKB/Swiss-Prot Summary for LRIT3 Gene
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 (PubMed:28334377). 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 (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519).