KRT18 gene

keratin 18

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in the uptake of thrombin-antithrombin complexes by hepatic cells (By similarity). When phosphorylated, plays a role in filament reorganization. Involved in the delivery of mutated CFTR to the plasma membrane. Together with KRT8, is involved in interleukin-6 (IL-6)-mediated barrier protection.

Covered on Genetics Home Reference:

From UniProt:

Cirrhosis (CIRRH): A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. [MIM:215600]

Cytogenetic Location: 12q13, which is the long (q) arm of chromosome 12 at position 13

Molecular Location: base pairs 52,948,871 to 52,952,901 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13, which is the long (q) arm of chromosome 12 at position 13
  • CK-18
  • CYK18
  • K18