| Primary Identifier | MGI:96650 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 16480 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables alpha-catenin binding activity. Acts upstream of or within cell-cell adhesion; desmosome assembly; and skin development. Located in several cellular components, including Z disc; adherens junction; and intermediate filament. Part of catenin complex. Is active in cornified envelope. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study arrhythmogenic right ventricular dysplasia 12 and epidermolytic hyperkeratosis. Human ortholog(s) of this gene implicated in cardiomyopathy (multiple); palmoplantar keratosis (multiple); renal cell carcinoma; and reproductive organ cancer (multiple). Orthologous to human JUP (junction plakoglobin). PHENOTYPE: Homozygous null mutants die with severe heart defects at embryonic day 10.5-16, depending on genetic background. Mutants that survive to birth exhibit skin blistering and subcorneal acantholysis associated with reduced number of desmosomes. [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
