NPR2
NPR2 (Natriuretic Peptide Receptor 2) is a protein that in humans is encoded by the NPR2 gene. This protein is a part of the natriuretic peptide system, which plays a crucial role in cardiovascular and renal homeostasis.
Function[edit | edit source]
NPR2 is a guanylyl cyclase (GC) that serves as a receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits increased catalytic activity. The protein is involved in oocyte maturation and follicle development, skeletal growth, and possibly in the regulation of kidney function and cardiovascular homeostasis.
Clinical significance[edit | edit source]
Mutations in the NPR2 gene are associated with acromesomelic dysplasia, Maroteaux type, a rare form of short-limb dwarfism, and may be involved in other skeletal abnormalities.
Structure[edit | edit source]
The NPR2 protein is a single-pass type I membrane protein. It contains a large extracellular domain, a single transmembrane domain, and a cytoplasmic region. The extracellular domain is responsible for ligand binding, while the cytoplasmic region has the catalytic activity.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD