Gene: KRT8

Alternate names for this Gene: CARD2|CK-8|CK8|CYK8|K2C8|K8|KO

Gene Summary: This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: keratin 8

Type of Gene: protein-coding

Gene: KRT18

Alternate names for this Gene: CK-18|CYK18|K18

Gene Summary: KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.13

Description of this Gene: keratin 18

Type of Gene: protein-coding

rs57758506 in KRT8;KRT18 gene and Cirrhosis, Familial PMID 9011570 1997 Mutation of human keratin 18 in association with cryptogenic cirrhosis.

PMID 12724528 2003 Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.