natriuretic peptide receptor 2
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
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.
From NCBI Gene:
- Epiphyseal chondrodysplasia, miura type
- Acromesomelic dysplasia, Maroteaux type
- Short stature with nonspecific skeletal abnormalities
Short stature with non-specific skeletal abnormalities (SNSK): A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. [MIM:616255]
Acromesomelic dysplasia, Maroteaux type (AMDM): An autosomal recessive acromesomelic chondrodysplasia. 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 characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all skeletal elements are present but show abnormal rates of linear growth. [MIM:602875]
Epiphyseal chondrodysplasia, Miura type (ECDM): An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. [MIM:615923]