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URL of this page: https://medlineplus.gov/genetics/gene/utp4/

UTP4 gene

UTP4 small subunit processome component

Normal Function

The UTP4 gene provides instructions for making a protein called cirhin, whose precise function is unknown. This protein is found in many different tissues and organs. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA.

Studies also suggest that cirhin interacts with other proteins, and it may function as part of a protein complex (a group of proteins that work together). The significance of these protein interactions is unknown.

Health Conditions Related to Genetic Changes

North American Indian childhood cirrhosis

At least one mutation in the UTP4 gene has been found to cause North American Indian childhood cirrhosis, a chronic liver disease identified in a First Nation population in Quebec. The known mutation replaces the amino acid arginine with the amino acid tryptophan at protein position 565 (written as Arg565Trp or R565W). This genetic change likely alters the structure and function of cirhin. However, it is unclear why the effects of the UTP4 gene mutation are limited to the liver or how they cause the progressive liver damage characteristic of this disorder.

More About This Health Condition

Other Names for This Gene

  • CIR1A_HUMAN
  • CIRH1A
  • cirhin
  • cirrhosis, autosomal recessive 1A (cirhin)
  • FLJ14728
  • FLJ17146
  • KIAA1988
  • NAIC
  • testis expressed gene 292
  • TEX292

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Betard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype. Am J Hum Genet. 2000 Jul;67(1):222-8. doi: 10.1086/302993. Epub 2000 May 11. Citation on PubMed or Free article on PubMed Central
  • Chagnon P, Michaud J, Mitchell G, Mercier J, Marion JF, Drouin E, Rasquin-Weber A, Hudson TJ, Richter A. A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet. 2002 Dec;71(6):1443-9. doi: 10.1086/344580. Epub 2002 Nov 4. Citation on PubMed or Free article on PubMed Central
  • Freed EF, Baserga SJ. The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. Nucleic Acids Res. 2010 Aug;38(14):4798-806. doi: 10.1093/nar/gkq185. Epub 2010 Apr 12. Citation on PubMed or Free article on PubMed Central
  • Yu B, Mitchell GA, Richter A. Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1. Exp Cell Res. 2009 Nov 1;315(18):3086-98. doi: 10.1016/j.yexcr.2009.08.017. Epub 2009 Sep 2. Citation on PubMed
  • Yu B, Mitchell GA, Richter A. Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis. Exp Cell Res. 2005 Dec 10;311(2):218-28. doi: 10.1016/j.yexcr.2005.08.012. Epub 2005 Oct 12. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.