Primary Identifier | MGI:96610 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 16412 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables integrin binding activity involved in cell-matrix adhesion and signaling receptor activity. Contributes to laminin binding activity. Involved in several processes, including basement membrane organization; cellular response to low-density lipoprotein particle stimulus; and regulation of synapse pruning. Acts upstream of or within with a negative effect on reactive gliosis and regulation of spontaneous synaptic transmission. Acts upstream of or within several processes, including circulatory system development; neuron projection morphogenesis; and regulation of transmembrane transport. Located in several cellular components, including intercalated disc; myelin sheath abaxonal region; and sarcolemma. Part of integrin alpha7-beta1 complex and integrin alpha9-beta1 complex. Is active in Schaffer collateral - CA1 synapse; cerebellar climbing fiber to Purkinje cell synapse; and synaptic membrane. Colocalizes with cytoplasmic vesicle; perinuclear region of cytoplasm; and plasma membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and heart. Used to study Hirschsprung's disease. Orthologous to human ITGB1 (integrin subunit beta 1). PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators] |