Gene Symbol | UTP4 |
Entrez Gene ID | 84916 |
Full Name | UTP4, small subunit processome component |
Synonyms | CIRH1A,CIRHIN,NAIC,TEX292 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: |