Aliases for KRT14 Gene
External Ids for KRT14 Gene
Previous HGNC Symbols for KRT14 Gene
Previous GeneCards Identifiers for KRT14 Gene
This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
GeneCards Summary for KRT14 Gene
KRT14 (Keratin 14) is a Protein Coding gene. Diseases associated with KRT14 include Epidermolysis Bullosa Simplex, Autosomal Recessive 1 and Naegeli-Franceschetti-Jadassohn Syndrome. Among its related pathways are Corticotropin-releasing hormone signaling pathway and Cytoskeleton remodeling Neurofilaments. Gene Ontology (GO) annotations related to this gene include structural molecule activity and keratin filament binding. An important paralog of this gene is KRT16.
UniProtKB/Swiss-Prot Summary for KRT14 Gene
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.