Aliases for KRT6A Gene
External Ids for KRT6A Gene
Previous HGNC Symbols for KRT6A Gene
Previous GeneCards Identifiers for KRT6A Gene
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]
GeneCards Summary for KRT6A Gene
KRT6A (Keratin 6A) is a Protein Coding gene. Diseases associated with KRT6A include Pachyonychia Congenita 3 and Pachyonychia Congenita 1. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT6B.
UniProtKB/Swiss-Prot Summary for KRT6A Gene
Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.