Jagged 2/JAG2

Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity).

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.

Expressed in heart, placenta and skeletal muscle and to a lesser extent in pancreas. Very low expression in brain, lung, liver and kidney.

• Membrane
• Single-pass type I membrane protein

Protein jagged-2, Jagged2, hJ2, JAG2

• entrezGene:3714
• omim:602570
• swissprot:Q9Y219

Proteins

Oncology

133367Da