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

rs57370769 in KRT18 gene and Cirrhosis, Familial PMID 12724528 2003 Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.

PMID 9011570 1997 Mutation of human keratin 18 in association with cryptogenic cirrhosis.

rs3741442 in KRT18 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs3741442 in KRT18 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.