NPR2

Molecular characteristics

Acromesomelic Dysplasia Maroteaux Type (AMDM) is caused by mutations in the NPR-2 gene in an autosomal recessive pattern of inheritance. This means that both parents must pass on at least one faulty copy of the gene for the child to be affected by AMDM. The receptor molecule encoded by NPR-2 is involved in several important processes, including cardiac growth, blood pressure and bone tissue formation.