NPRB Antibody – Mouse Monoclonal

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, Jul 2008]

ANPB: natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Contains 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. Is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. 21 mutations linked to acromesomelic dysplasia (skeletal malformation). 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Protein kinase, RGC; Kinase, protein; Protein kinase, dual-specificity (receptor); Membrane protein, integral; Receptor, misc.; Guanylyl cyclase; Lyase; Nucleotide Metabolism - purine; EC 4.6.1.2; RGC group; RGC family

Chromosomal Location of Human Ortholog: 9p21-p12

Cellular Component: integral to membrane; plasma membrane

Molecular Function: identical protein binding; guanylate cyclase activity; transmembrane receptor activity; GTP binding; hormone binding; natriuretic peptide receptor activity; peptide hormone binding; receptor activity; ATP binding; protein kinase activity

Biological Process: cGMP biosynthetic process; ossification; cell surface receptor linked signal transduction; receptor guanylyl cyclase signaling pathway; regulation of blood pressure; negative regulation of meiotic cell cycle; signal transduction; protein amino acid phosphorylation

Disease: Short Stature With Nonspecific Skeletal Abnormalities; Epiphyseal Chondrodysplasia, Miura Type; Acromesomelic Dysplasia, Maroteaux Type