Primary Identifier | MGI:96690 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 16666 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of cytoskeleton. Involved in several processes, including establishment of skin barrier; keratinization; and keratinocyte migration. Acts upstream of or within intermediate filament cytoskeleton organization. Located in intermediate filament. Is active in cornified envelope. Is expressed in several structures, including alimentary system; lower urinary tract; respiratory system; sensory organ; and skin. Used to study nonepidermolytic palmoplantar keratoderma and pachyonychia congenita. Human ortholog(s) of this gene implicated in ectodermal dysplasia; focal nonepidermolytic palmoplantar keratoderma 1; and pachyonychia congenita. Orthologous to human KRT16 (keratin 16). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. [provided by MGI curators] |