KRT18 Chromosome 12

Keratin 18
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000111057
Associated Conditions (4)
Cirrhosis
cryptogenic
noncryptogenic
susceptibility to
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS57758506 Health Risk Pathogenic; risk factor Cirrhosis, cryptogenic, noncryptogenic
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