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KRT18

MIM.148070 12q13

Tuesday 6 July 2004

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