| Primary Identifier | MGI:1277961 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 18810 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin filament binding activity and dystroglycan binding activity. Involved in several processes, including cell-cell junction organization; cytoskeleton organization; and muscle cell development. Located in brush border and contractile muscle fiber. Is active in several cellular components, including Z disc; hemidesmosome; and sarcolemma. Is expressed in lens; retina; and skin. Used to study epidermolysis bullosa simplex Ogna type and epidermolysis bullosa simplex with muscular dystrophy. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Orthologous to human PLEC (plectin). PHENOTYPE: Targeted mutations of this gene result in neonatal death, skin blistering, impaired myofibril integrity, reduced hemidesmosome number, and disintegration of intercalated disks in the heart. Mice lacking isoform 1 are viable with no skin blistering but leukocyte recruitment to wounds is impaired. [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
