Pathology

 germline heterozygous mutations in KRT18 in cirrhosis of undetermined cause (MIM.215600)

 KRT8 (and KRT18) proteins hyperphosphorylation

• site-specific keratin phosphorylation in liver disease is a progression marker when increased and a likely regression marker when decreased (#15368451#)
• KRT8 (and KRT18) phosphorylation plays a significant and site-specific role in regulating keratin filament organization, association with binding proteins, and modulation of cell cycle progression. (#15368451#)

References

 Owens DW, Lane EB. Keratin mutations and intestinal pathology. J Pathol. 2004 Nov;204(4):377-85. PMID: #15495267#

 Zatloukal K, Stumptner C, Fuchsbichler A, Fickert P, Lackner C, Trauner M, Denk H. The keratin cytoskeleton in liver diseases. J Pathol. 2004 Nov;204(4):367-76. PMID: #15495250#

 Ku NO, Darling JM, Krams SM, Esquivel CO, Keeffe EB, Sibley RK, Lee YM, Wright TL, Omary MB. Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. Proc Natl Acad Sci U S A. 2003 May 13;100(10):6063-8. PMID: #12724528#