Protein Name | UTP4 small subunit processome component |
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Organism | Homo sapiens |
Gene ID | 84916 |
Gene Symbol | UTP4 |
UniProt | Q969X6 (UTP4_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
6
Total Number of Articles : 4 |
Description |
UTP4 small subunit processome component |
Gene 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] |
synonyms |
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Properties | |