UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC.[5][6][7] This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and .[8] Biallelic mutations to UTP4 have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.[9]
^Sato M, Araki N, Kumeta M, Takeyasu K, Taguchi Y, Asai T, et al. (December 2013). "Interaction, mobility, and phosphorylation of human orthologues of WD repeat-containing components of the yeast SSU processome t-UTP sub-complex". Biochemistry and Cell Biology. 91 (6): 466–75. doi:10.1139/bcb-2013-0062. PMID24219289.
López-Fernández LA, del Mazo J (September 1996). "Characterization of genes expressed early in mouse spermatogenesis, isolated from a subtractive cDNA library". Mammalian Genome. 7 (9): 698–700. doi:10.1007/s003359900210. PMID8703127. S2CID29829690.
Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. doi:10.1038/nature03207. PMID15635413. S2CID4344740.
Yu B, Mitchell GA, Richter A (December 2005). "Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis". Experimental Cell Research. 311 (2): 218–28. doi:10.1016/j.yexcr.2005.08.012. PMID16225863.