CIRH1A (NP_116219, 587 a.a. ~ 686 a.a) partial recombinant protein with GST tag. The sequence is SFHPKRPMHILLHDAYMFCIIDKSLPLPNDKTLLYNPFPPTNESDVIRRRTAHAFKISKI YKPLLFMDLLDERTLVAVERPLDDIIAQLPPPIKKKKFGT
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.
Pathway
Ribosome biogenesis in eukaryotes;
Citations
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