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.
应用类型
WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 497-686 of human CIRH1A (NP_116219.2).
