IGSF3
Involvement in disease
Lacrimal duct defect
LCDD
A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in a wide range of tissues with High expression in Placenta, kidney and lung.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
EWI3, KIAA0466, IGSF3, Immunoglobulin superfamily member 3, IgSF3, Glu-Trp-Ile EWI motif-containing protein 3, EWI-3