| Primary Identifier | MGI:1328359 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 18772 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable cadherin binding activity and lamin binding activity. Predicted to be involved in cell-cell adhesion; intermediate filament bundle assembly; and negative regulation of mRNA catabolic process. Predicted to act upstream of or within cell adhesion. Located in desmosome. Is active in cornified envelope. Is expressed in alimentary system; larynx; sensory organ; skin; and urethra. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced birth weight, absent whiskers, and neonatal lethality associated with skin fragility, skin lesions, loss of desmosomal adhesion, and impaired skin barrier function due to abnormal tight junction formation. [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
