DefinitionThis section has been translated automatically.
The KRT3 gene (KRT3 stands for keratin 3) is a protein-coding gene located on chromosome 12q13.13. The protein encoded by this gene belongs to the keratin protein family.
General informationThis section has been translated automatically.
Type II cytokeratins are clustered in a region of chromosome 12q12-q13.
The type II cytokeratins consist of basic or neutral proteins arranged in pairs of heterotypic keratin chains that are co-expressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in corneal epithelium with family member KRT12.
Diseases associated with KRT3 include:
Corneal dystrophy, Meesmann, 2
Corneal dystrophy, Meesmann, 1.
LiteratureThis section has been translated automatically.
- Chen JL et al (2015) Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. Mol Vis 21:1378-1386.
- Nishino Tet al (2019) In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy. Jpn J Ophthalmol 63:46-55.