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CIRH1A

Official Full Name
UTP4 small subunit processome component
Organism
Homo sapiens
GeneID
84916
Background
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. [provided by RefSeq, Jan 2016]
Synonyms
UTP4; NAIC; CIRH1A; CIRHIN; TEX292;

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