LRIT3 gene

leucine rich repeat, Ig-like and transmembrane domains 3

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Congenital stationary night blindness, type 1F

From UniProt:

Night blindness, congenital stationary, 1F (CSNB1F): An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. [MIM:615058]

Cytogenetic Location: 4q25, which is the long (q) arm of chromosome 4 at position 25

Molecular Location: base pairs 109,848,182 to 109,872,315 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q25, which is the long (q) arm of chromosome 4 at position 25
  • CSNB1F
  • FIGLER4