Immunogen sequence: RVRFFNYVPS GIRCVAYNNQ SNRLAVSRTD GTVEIYNLSA NYFQEKFFPG HESRATEALC WAEGQRLFSA GLNGEIMEYD LQ
CIRH1A 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.
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Protein Aliases: Cirhin; cirrhosis, autosomal recessive 1A (cirhin); testis expressed gene 292; U3 small nucleolar RNA-associated protein 4 homolog; UTP4 small subunit (SSU) processome component; UTP4 small subunit processome component; UTP4, small subunit (SSU) processome component, homolog
Gene Aliases: CIRH1A; CIRHIN; cPERP-E; KIAA1988; NAIC; TEX292; UTP4
UniProt ID: (Human) Q969X6
Entrez Gene ID: (Human) 84916