UTP4, Official Symbol UTP4provided by HGNC Official Full Name UTP4 small subunit processome componentprovided by HGNC Primary source HGNC:HGNC:1983 See related Ensembl:ENSG00000141076 MIM:607456; AllianceGenome:HGNC:1983 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NAIC; CIRH1A; CIRHIN; TEX292 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] Expression Ubiquitous expression in kidney (RPKM 22.9), testis (RPKM 21.3) and 25 other tissues See more Orthologs mouse all