Gene: KRT3

Alternate names for this Gene: CK3|K3|MECD2

Gene Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: keratin 3

Type of Gene: protein-coding

rs57872071 in KRT3 gene and Corneal Dystrophy, Juvenile Epithelial of Meesmann PMID 16227835 2005 Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

PMID 9171831 1997 Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.