Structural highlights
Disease
[K1C14_HUMAN] Epidermolysis bullosa simplex, Dowling-Meara type;Localized epidermolysis bullosa simplex;Dermatopathia pigmentosa reticularis;Naegeli-Franceschetti-Jadassohn syndrome;Epidermolysis bullosa simplex with mottled pigmentation;Generalized epidermolysis bullosa simplex, non-Dowling-Meara type;KRT14-related epidermolysis bullosa simplex. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. [K2C5_HUMAN] Epidermolysis bullosa simplex, Dowling-Meara type;Localized epidermolysis bullosa simplex;Epidermolysis bullosa simplex with circinate migratory erythema;Epidermolysis bullosa simplex with mottled pigmentation;Dowling-Degos disease;Generalized epidermolysis bullosa simplex, non-Dowling-Meara type. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
[K1C14_HUMAN] The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.[1]
References
- ↑ Bousquet O, Ma L, Yamada S, Gu C, Idei T, Takahashi K, Wirtz D, Coulombe PA. The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro. J Cell Biol. 2001 Nov 26;155(5):747-54. Epub 2001 Nov 26. PMID:11724817 doi:http://dx.doi.org/10.1083/jcb.200104063
