Aliases for KRT8 Gene
External Ids for KRT8 Gene
Previous GeneCards Identifiers for KRT8 Gene
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. [provided by RefSeq, Jan 2012]
GeneCards Summary for KRT8 Gene
KRT8 (Keratin 8) is a Protein Coding gene. Diseases associated with KRT8 include Cirrhosis, Cryptogenic and Hidrocystoma. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Signaling mediated by p38-alpha and p38-beta. GO annotations related to this gene include structural molecule activity and scaffold protein binding. An important paralog of this gene is KRT6A.
UniProtKB/Swiss-Prot for KRT8 Gene
Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.