Primary Identifier | MGI:97372 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 230103 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables guanylate cyclase activity; identical protein binding activity; and natriuretic peptide receptor activity. Involved in several processes, including reproductive structure development; skeletal system development; and vasculature development. Acts upstream of or within bone development; negative regulation of meiotic cell cycle; and negative regulation of oocyte maturation. Is active in several cellular components, including cilium; neuron projection; and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; sensory organ; and skeleton. Used to study achondroplasia; acromesomelic dysplasia, Maroteaux type; and bone development disease. Human ortholog(s) of this gene implicated in Miura type epiphyseal chondrodysplasia; acromesomelic dysplasia, Maroteaux type; and essential hypertension. Orthologous to human NPR2 (natriuretic peptide receptor 2). PHENOTYPE: Mutations in this gene result in skeletal abnormalities, malocclusion, and reduced viability. [provided by MGI curators] |