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UTP4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

UTP4 gene

The UTP4 gene provides instructions for the protein cirhin, which is involved in ribosome biogenesis and linked to North American Indian childhood cirrhosis.

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. 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).

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.

Other Names for This Gene

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

Frequently Asked Questions

Initial signs of NAIC often include poor growth, fatigue, jaundice (yellowing of the skin and eyes), dark urine, and pale stools. As the disease progresses, children may develop an enlarged liver and spleen, fluid retention, and bleeding problems.
Diagnosis involves a combination of clinical symptoms, elevated liver enzymes, and imaging studies of the liver. A liver biopsy is often performed to assess the extent of damage. Genetic testing for the specific Arg565Trp mutation in the UTP4 gene confirms the diagnosis, particularly in affected populations.
Treatment for NAIC is primarily supportive, focusing on managing symptoms and complications of liver failure. This includes nutritional support, medications to reduce ammonia levels or manage fluid retention, and in severe cases, liver transplantation may be considered.
NAIC is an autosomal recessive condition, meaning a child must inherit two copies of the pathogenic UTP4 gene variant (one from each parent) to develop the disease. Parents who are carriers (have one copy of the variant) typically do not show symptoms but have a 25% chance with each pregnancy of having an affected child. Genetic counseling is highly recommended for families in affected populations to understand inheritance patterns and reproductive options.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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