KRT8 gene

keratin 8

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

From NCBI 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]

From UniProt:

Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle.

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: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13

Molecular Location: base pairs 52,897,187 to 52,949,866 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q13.13, which is the long (q) arm of chromosome 12 at position 13.13
  • CARD2
  • CK-8
  • CK8
  • CYK8
  • K2C8
  • K8
  • KO