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
WDR43.[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.
Nagase T, Kikuno R, Ohara O (December 2001). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Research. 8 (6): 319–27.
doi:
10.1093/dnares/8.6.319.
PMID11853319.
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.
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
WDR43.[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.
Nagase T, Kikuno R, Ohara O (December 2001). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Research. 8 (6): 319–27.
doi:
10.1093/dnares/8.6.319.
PMID11853319.
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.