NPR2 is located on chromosome 9p13.3 and codes for the natriuretic peptide receptor-B (NPR-B), a homodimeric transmembrane receptor. NPR-B is a member of a family of three natriuretic peptide receptor proteins (i.e NPR-A, NPR-B, NPR-C) that bind to natriuretic peptide hormones and regulate important physiological processes such as cardiac growth, blood pressure, axon guidance and endochondral ossification.
NPR-B produces cytoplasmic cyclic GMP (cGMP) from GTP when binding its extracellular ligand, C-type natriuretic peptide (CNP) by activating a guanylyl cyclase domain. Downstream intracellular signalling is then mediated by a number of cGMP-dependent proteins.
While both homozygous and compound heterozygous variants in the gene NPR2 play a vital role in AMDM, the former has been linked to more severe phenotypes.
NPR2