Primary Identifier | MGI:96070 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 15200 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables epidermal growth factor receptor binding activity; heparin binding activity; and signaling receptor activator activity. Involved in several processes, including ERBB2 signaling pathway; positive regulation of keratinocyte migration; and wound healing, spreading of epidermal cells. Acts upstream of or within several processes, including epidermal growth factor receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; and regulation of heart contraction. Located in extracellular space and plasma membrane. Is expressed in several structures, including alimentary system; branchial arch; heart; submandibular gland primordium; and telencephalon. Human ortholog(s) of this gene implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. Orthologous to human HBEGF (heparin binding EGF like growth factor). PHENOTYPE: Homozygotes for targeted null mutations exhibit grossly enlarged heart valves and ventricular chambers, and hypoplastic, immature lungs. Most mutants die by 3 weeks of age. Conditional deletion specifically in thge ventral forebrain results in behavior abnormalities and defects in pyramidal neurons. [provided by MGI curators] |