Aliases for LRIT3 Gene
- Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3 2 3 5
- Fibronectin Type III, Immunoglobulin And Leucine Rich Repeat Domains 4 2 3
- Leucine-Rich Repeat, Immunoglobulin-Like Domain And Transmembrane Domain-Containing Protein 3 3
- Leucine-Rich Repeat, Immunoglobulin-Like And Transmembrane Domains 3 3
- FIGLER4 3
- CSNB1F 3
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 , 1F, Autosomal Recessive and Congenital Stationary Night Blindness. An important paralog of this gene is LRIT1.
UniProtKB/Swiss-Prot for LRIT3 Gene
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 (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519).