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Keratin, type I cytoskeletal 13

Function

Type 1 keratin (Probable). Maintains postnatal tongue mucosal cell homeostasis and tissue organization in response to mechanical stress, potentially via regulation of the G1/S phase cyclins CCNE1 and CCNE2 (By similarity).

Involvement in disease

White sponge nevus 2

WSN2

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.

Post-translational modifications

O-glycosylated; glycans consist of single N-acetylglucosamine residues.

Sequence Similarities

Belongs to the intermediate filament family.

Tissue Specificity

Expressed in some epidermal sweat gland ducts (at protein level) and in exocervix, esophagus and placenta.

Alternative names

Cytokeratin-13, Keratin-13, CK-13, K13, KRT13

swissprot:P13646 omim:148065 entrezGene:3860