JAG2
Function
Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity).
Involvement in disease
Muscular dystrophy, limb-girdle, autosomal recessive 27
LGMDR27
An autosomal recessive muscular disorder characterized by progressive muscle weakness most prominent in the proximal lower limb and axial muscles, and resulting in walking difficulty or loss of ambulation. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Some affected individuals manifest impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows non-specific dystrophic changes.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in heart, placenta and skeletal muscle and to a lesser extent in pancreas. Very low expression in brain, lung, liver and kidney.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
Protein jagged-2, Jagged2, hJ2, JAG2