Official Full Name
cirrhosis, autosomal recessive 1A (cirhin)
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.
CIRH1A; cirrhosis, autosomal recessive 1A (cirhin); cirhin; FLJ14728; KIAA1988; NAIC; TEX292; UTP4; small subunit (SSU) processome component; homolog (yeast); FLJ17146; testis expressed gene 292; UTP4, small subunit (SSU) processome component, homolog; zgc:77199; wu:fi09g10; wu:fi37c02