KRT4

Involvement in disease

White sponge nevus 1

WSN1

A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the intermediate filament family.

Tissue Specificity

Detected in the suprabasal layer of the stratified epithelium of the esophagus, exocervix, vagina, mouth and lingual mucosa, and in cells and cell clusters in the mucosa and serous gland ducts of the esophageal submucosa (at protein level). Expressed widely in the exocervix and esophageal epithelium, with lowest levels detected in the basal cell layer.

Alternative names

CYK4, KRT4, Cytokeratin-4, Keratin-4, Type-II keratin Kb4, CK-4, K4

Database links

swissprot:P19013 omim:123940 swissprot:Q01546 swissprot:Q7Z794 entrezGene:3851 entrezGene:51350 entrezGene:374454