NPR3
Function
Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. May regulate diuresis, blood pressure and skeletal development. Does not have guanylate cyclase activity.
Involvement in disease
Boudin-Mortier syndrome
BOMOS
An autosomal recessive disorder characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, some patients show joint hypermobility and dilation of the aortic root.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ANF receptor family.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
ANPRC, C5orf23, NPRC, NPR3, Atrial natriuretic peptide receptor 3, Atrial natriuretic peptide clearance receptor, Atrial natriuretic peptide receptor type C, ANP-C, ANPR-C, NPR-C