KRT6A

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]

Keratin 6A

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.

Antimicrobial humoral immune response mediated by antimicrobial peptideManual Assertion Based On ExperimentIDA:UniProtKB
Cell differentiation1 PublicationNAS:UniProtKB
Cytolysis by host of symbiont cellsManual Assertion Based On ExperimentIDA:UniProtKB
Defense response to Gram-positive bacteriumManual Assertion Based On ExperimentIDA:UniProtKB
Norphogenesis of an epitheliumISS:UniProtKB
Negative regulation of cytolysis by symbiont of host cellsManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of entry of bacterium into host cellManual Assertion Based On ExperimentIDA:UniProtKB
Positive regulation of cell population proliferation1 PublicationNAS:UniProtKB
Wound healingISS:UniProtKB

Cytosol
Extracellular exosome
Keratin filament
Membrane
Nucleus

Pachyonychia congenita 3 (PC3):
An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.