| Primary Identifier | MGI:96605 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 16403 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable growth factor binding activity; integrin binding activity; and laminin binding activity. Involved in positive regulation of neuron projection development. Acts upstream of or within several processes, including brown fat cell differentiation; filopodium assembly; and lymphoid lineage cell migration. Located in several cellular components, including basolateral plasma membrane; external side of plasma membrane; and hemidesmosome. Part of integrin complex. Colocalizes with plasma membrane. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study junctional epidermolysis bullosa Herlitz type. Human ortholog(s) of this gene implicated in junctional epidermolysis bullosa and junctional epidermolysis bullosa with pyloric atresia. Orthologous to human ITGA6 (integrin subunit alpha 6). PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
