Natriuretic Peptide Receptor B (NPR-B) (A.a. 288-302) (NPR2) Antibody – Rabbit Polyclonal

This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq]

Function: Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth. Ref.9 Ref.11

Catalytic activity: GTP = 3',5'-cyclic GMP + diphosphate.

Subcellular location: Membrane; Single-pass type I membrane protein.

Post-translational modification: Phosphorylation of the protein kinase-like domain is required for full activation by CNP

Involvement in disease: Defects in NPR2 are the cause of acromesomelic dysplasia Maroteaux type (AMDM) [

MIM:602875]. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs, and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDM is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all skeletal elements are present but show abnormal rates of linear growth. Ref.11

Sequence similarities: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.Contains 1 guanylate cyclase domain.Contains 1 protein kinase domain.