LRIG2
Involvement in disease
Urofacial syndrome 2
UFS2
A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in all tissues analyzed.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cytoplasm
Alternative names
KIAA0806, LIG2, LRIG2, Leucine-rich repeats and immunoglobulin-like domains protein 2, LIG-2