Primary Identifier | MGI:109173 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 13505 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Involved in desmosome maintenance; negative regulation of epithelial cell proliferation; and skin epidermis development. Located in desmosome. Is expressed in epithelium and skin. Orthologous to human DSC1 (desmocollin 1). PHENOTYPE: Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16. [provided by MGI curators] |