靶标:
Utp4
产品别名:
Cirh1a; Cirhin; Naic; Teg-292; Tex292; Utp4; UTP4 small subunit processome component; UTP4 small subunit processome component; U3 small nucleolar RNA-associated protein 4 homolog; cirrhosis, autosomal recessive 1A; testis-expressed gene 292 protein; 常染色体隐性遗传肝硬化1A;
背景信息:
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],