Primary Identifier | MGI:103306 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 21844 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including guanyl-nucleotide exchange factor activity; microtubule binding activity; and signaling receptor binding activity. Involved in several processes, including activation of GTPase activity; brain-derived neurotrophic factor receptor signaling pathway; and regulation of dopaminergic neuron differentiation. Acts upstream of or within ephrin receptor signaling pathway; positive regulation of axonogenesis; and small GTPase-mediated signal transduction. Located in kinocilium; pericentriolar material; and plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; sensory organ; skin; and tooth. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with language delay and seizures. Orthologous to human TIAM1 (TIAM Rac1 associated GEF 1). PHENOTYPE: Mice homozygous for a targeted null allele display resistance to chemically-induced tumors, however, tumors that do develop progress to malignancy. Mice homozygous for a gene trap allele display anencephaly, exencephaly and/or neural tube defects. [provided by MGI curators] |