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GENATLAS PHENOTYPE

last update : 7/03/2008

Symbol	CCRH
Location	12q13
Name	chronic hepatitis, cryptogenic cirrhosis
Corresponding gene	KRT18
Main clinical features	infantile liver cirrhosis
Genetic determination	multigenic
Function/system disorder	digestive tract/liver and annex
Type	susceptibility factor

Gene product

Name	keratin 18 deficiency causing a filament assembly defect (KRT18)

Remark(s)

mutation in keratin 18 induces mitochondrial fragmentation in liver-derived epithelial cells