KRT13

keratin 13

The KRT13 gene provides instructions for making a protein called keratin 13. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body. Keratin 13 is found in the moist lining (mucosae) of the mouth, nose, esophagus, genitals, and anus.

Keratin 13 partners with a similar protein, keratin 4 (produced from the KRT4 gene), to form molecules known as intermediate filaments. These filaments assemble into strong networks that provide strength and resilience to the different mucosae. Networks of intermediate filaments protect the mucosae from being damaged by friction or other everyday physical stresses.

At least five KRT13 gene mutations have been found to cause white sponge nevus, a condition that results in the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. These nevi most often occur on the mouth (oral) mucosa (plural: mucosae). Rarely, white sponge nevus occurs on the mucosae of the nose, esophagus, genitals, or anus.

The KRT13 gene mutations that cause white sponge nevus disrupt the structure of keratin 13. As a result, keratin 13 does not fit together properly with keratin 4, leading to the formation of irregular intermediate filaments that are easily damaged with little friction or trauma. Fragile intermediate filaments in the oral mucosa might be damaged when eating or brushing one's teeth. Damage to intermediate filaments leads to inflammation and promotes the abnormal growth and division (proliferation) of epithelial cells, causing the mucosae to thicken and resulting in white sponge nevus.

Cytogenetic Location: 17q21.2, which is the long (q) arm of chromosome 17 at position 21.2

Molecular Location: base pairs 41,500,981 to 41,505,613 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q21.2, which is the long (q) arm of chromosome 17 at position 21.2
  • CK-13
  • CK13
  • cytokeratin-13
  • cytokeratin 13
  • K1C13_HUMAN
  • K13
  • keratin-13
  • keratin 13, type I
  • keratin, type I cytoskeletal 13