| 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 8.0.0) Predicted to enable DNA binding activity; cadherin binding activity; and lamin binding activity. Involved in several processes, including ameloblast differentiation; desmosome organization; and positive regulation of keratinocyte differentiation. Located in several cellular components, including desmosome; nucleus; and plasma membrane. Is active in cornified envelope. Is expressed in several structures, including alimentary system; respiratory system; sensory organ; skin; and urinary system. 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
