Sequence of this protein is as follows: NWLAASGTSA GVHVYNVKQL KLHCTVPAYN FPVTAMAIAP NTNNLVIAHS DQQVFEYSIP DKQYTDWSRT VQKQGFHHLW LQRDTPITHI SFHPKRPMHI LLHDAYMFCI IDKSLPLPND KTLLYNPFPP TNESDVIRRR TAHAFKISKI YKPLLFMDLL DERTLVAVER PLDDIIAQLP PPIKKKKFGT
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Cirhin; cirrhosis, autosomal recessive 1A (cirhin); testis expressed gene 292; Testis-expressed gene 292 protein; 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; Teg-292; TEX292; UTP4