|
- CK13
- MGC3781
- cytokeratin 13
- keratin, type I cytoskeletal 13
- Keratin, type I cytoskeletal 13 (Cytokeratin 13) (K13) (CK 13)
|
|
The protein encoded by this gene is a
member of the keratin gene family. The keratins are intermediate filament proteins
responsible for the structural integrity of epithelial cells and are subdivided into
cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins
which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is
paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified
epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal
dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of
chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript
variants; however, not all variants have been described.
|
|
- Location: 17q21.2
- Orientation: minus strand
- Size: 4632 bp
- 7 exons
- DNA sequence (Human):NC_000017.
|
- Mutations and SNPs (According
to HGMD and SNP)
|
|
|
|
|
|
|
|
|
|
|
|