Primary Identifier | MGI:97323 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 18053 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables death receptor activity; nerve growth factor binding activity; and small GTPase binding activity. Involved in several processes, including circadian regulation of gene expression; dorsal aorta development; and intracellular glucose homeostasis. Acts upstream of or within several processes, including hair follicle morphogenesis; nervous system development; and regulation of signal transduction. Located in several cellular components, including cell surface; cell-cell junction; and postsynaptic density. Is active in neuromuscular junction. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study Alzheimer's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease and depressive disorder. Orthologous to human NGFR (nerve growth factor receptor). PHENOTYPE: Homozygotes for targeted mutations exhibit increased perinatal lethality, skin abnormalities, growth retardation, reduced sensory nerve innervation, elevated pain threshold, ataxia, reduced sciatic nerve diameter, and blood vessel abnormalities. [provided by MGI curators] |