LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3
Gene ID: 345193, updated on 5-Mar-2024Gene type: protein coding
Also known as: CSNB1F; FIGLER4
- See all available tests in GTR for this gene
- Go to complete Gene record for LRIT3
- Go to Variation Viewer for LRIT3 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Congenital stationary night blindness 1F | See labs |
Genomic context
- Location:
- 4q25
- Sequence:
- Chromosome: 4; NC_000004.12 (109848107..109872315)
- Total number of exons:
- 5
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for LRIT3 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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