UTP4, small subunit processome component
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.
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 Native American 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.
- cirrhosis, autosomal recessive 1A (cirhin)
- testis expressed gene 292