Cytokeratin 8+18 ist ein Gen, das durch das Symbol KRT8 kodiert wird. Andere Namen sind: Keratin, type II cytoskeletal 8; Cytokeratin-8; CK-8; Keratin-8; K8; Type-II keratin Kb8; KRT8; CYK8. Cytokeratin 8+18 hat eine Masse von 53.7kDa, eine Aminosäurelänge von 483, und ist an Cirrhosis beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.
Entrez Zusammenfassung
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.
Gewebespezifität
Observed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma membrane in structures that contain dystrophin and spectrin. Expressed in gingival mucosa and hard palate of the oral cavity.
Rolle bei Krankheiten
Cirrhosis: 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.
Sequenzähnlichkeiten
Belongs to the intermediate filament family.
Posttranslationale Modifikation
Phosphorylation on serine residues is enhanced during EGF stimulation and mitosis. Ser-74 phosphorylation plays an important role in keratin filament reorganization.
Zellort
Cytoplasm. Nucleus > Nucleoplasm. Nucleus matrix.