CIR1A Rabbit Polyclonal Antibody

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis| a severe intrahepatic cholestasis that results in transient neonatal jaundice| and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants.