Primary Identifier | MGI:96613 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 192897 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable G protein-coupled receptor binding activity and integrin binding activity. Predicted to contribute to insulin-like growth factor I binding activity and neuregulin binding activity. Acts upstream of or within several processes, including filopodium assembly; peripheral nervous system myelin formation; and trophoblast cell migration. Located in several cellular components, including basal plasma membrane; cell surface; and hemidesmosome. Part of integrin complex. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study junctional epidermolysis bullosa non-Herlitz type and junctional epidermolysis bullosa with pyloric atresia. Human ortholog(s) of this gene implicated in junctional epidermolysis bullosa and junctional epidermolysis bullosa with pyloric atresia. Orthologous to human ITGB4 (integrin subunit beta 4). PHENOTYPE: Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence. [provided by MGI curators] |