Primary Identifier | MGI:95411 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 13867 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables neuregulin receptor activity. Involved in ERBB2-ERBB3 signaling pathway; Schwann cell development; and myelination. Acts upstream of or within several processes, including negative regulation of motor neuron apoptotic process; nervous system development; and positive regulation of calcineurin-NFAT signaling cascade. Located in apical plasma membrane and lateral plasma membrane. Is active in plasma membrane. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ epithelium. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome 2; lung adenocarcinoma; lung non-small cell carcinoma; and neuronal intestinal dysplasia type A. Orthologous to human ERBB3 (erb-b2 receptor tyrosine kinase 3). PHENOTYPE: Homozygotes for targeted null mutations exhibit a lack of Schwann-cell precursors leading to loss of sensory and motor neurons, hypoplasia of the primary sympathetic ganglion chain, cardiac defects, impaired brain development, and embryonic lethality. [provided by MGI curators] |