Primary Identifier | MGI:96602 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 16400 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable several functions, including fibronectin binding activity; integrin binding activity; and protein heterodimerization activity. Involved in postsynapse organization and synaptic membrane adhesion. Acts upstream of or within several processes, including dendritic spine maintenance; exploration behavior; and negative regulation of Rho protein signal transduction. Located in several cellular components, including basolateral plasma membrane; external side of plasma membrane; and synaptic membrane. Is active in glutamatergic synapse; neuromuscular junction; and presynaptic active zone membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in junctional epidermolysis bullosa. Orthologous to human ITGA3 (integrin subunit alpha 3). PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the kidney and submandibular gland, decreased bronchial branching of the lungs, skin blisters at the dermal-epidermal junction, abnormal layering of the cerebral cortex and perinatal lethality. [provided by MGI curators] |