| Primary Identifier | MGI:96698 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 16678 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable carbohydrate binding activity and protein heterodimerization activity. Predicted to be a structural constituent of skin epidermis. Acts upstream of or within establishment of skin barrier and negative regulation of inflammatory response. Located in keratin filament. Is active in cornified envelope. Is expressed in autopod; nose; skin; and tongue. Used to study epidermolytic hyperkeratosis. Human ortholog(s) of this gene implicated in epidermolytic hyperkeratosis; epidermolytic hyperkeratosis 1; keratosis palmoplantaris striata 3; and nonepidermolytic palmoplantar keratoderma. Orthologous to human KRT1 (keratin 1). PHENOTYPE: Mice heterozygous for a dominant mutation exhibit significant blistering and skin erosions at birth and develop severe hyperkeratosis as adults. Mice homozygous for the dominant mutation also exhibit blistering, and die before weaning age. [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
