|
- Keratin 18
- K18
- Cytokeratin 18
- cell proliferation-inducing protein 46
- CYK18
- KRT18
|
|
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.
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.
|
|
- Location: 12q13
- Size: 4031 bp
- exons:
- DNA sequence (Human): NG_008351.1
|
- Mutations and SNPs (According
to HGMD and SNP)
|
|
|
|
|
|
|
|
|
|
|
|