| Primary Identifier | MGI:96702 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 110308 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable scaffold protein binding activity. Predicted to be a structural constituent of skin epidermis. Involved in several processes, including intermediate filament polymerization; regulation of cell migration; and response to mechanical stimulus. Located in cytoplasm; keratin filament; and plasma membrane. Is active in cornified envelope. Is expressed in several structures, including alimentary system; epithelium; genitourinary system; integumental system; and sensory organ. Used to study epidermolysis bullosa simplex Dowling-Meara type. Human ortholog(s) of this gene implicated in Dowling-Degos disease; epidermolysis bullosa simplex; and epidermolysis bullosa simplex with mottled pigmentation. Orthologous to human KRT5 (keratin 5). PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [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
