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RNU7-1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RNU7-1 gene

The RNU7-1 gene is responsible for producing a subunit of the U7 snRNP complex, which is vital for processing histone pre-mRNA.

Normal Function

The RNU7-1 gene provides instructions for making one piece (subunit) of a group of proteins known as the U7 small nuclear ribonucleoprotein (snRNP) complex. In cells, this complex plays an important role in processing messenger RNA (mRNA), which serves as the genetic blueprint for making proteins.

The U7 snRNP complex specifically targets the pre-mRNA of histones. Histones are structural proteins that bind to DNA and are necessary for copying a cell's DNA before the cell divides, a process known as DNA replication.

Health Conditions Related to Genetic Changes

Aicardi-Goutières syndrome

Variants in the RNU7-1 gene have been found to cause Aicardi-Goutières syndrome, a disorder characterized by severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and other health problems.

Research suggests that variants in this gene lead to a U7 snRNP complex that cannot properly process histone pre-mRNA. This failure causes RNA and DNA fragments to build up in cells during DNA replication, triggering an immune response that attacks the body's own tissues and organs.

Genomic Location

The RNU7-1 gene is found on chromosome 12.

Other Names for This Gene

  • AGS9
  • RF00066
  • RNA, small nuclear U7
  • RNA, small nuclear U7.1
  • RNA, U7 small nuclear
  • RNA, U7 small nuclear 1
  • RNU7
  • U7.1

Frequently Asked Questions

There is no cure, but management focuses on controlling seizures, reducing interferon activity with immunomodulatory drugs, and providing developmental support. Regular monitoring of liver function, hearing, and vision is recommended. Clinical trials targeting the interferon pathway are ongoing and may offer future options.===
Testing is done by sequencing the RNU7‑1 gene from a blood or saliva sample. Whole‑exome or targeted panel sequencing identifies pathogenic variants, while copy‑number analysis can detect deletions or duplications. Results are reported within 2–4 weeks and are interpreted by a clinical geneticist.
Infants with a RNU7‑1 variant often show a combination of developmental delay, microcephaly, and abnormal skin rashes such as livedo reticularis. They may also have elevated interferon‑α levels, leading to chronic fevers, and early onset seizures or abnormal brain imaging showing white matter changes. Early detection of these signs can prompt genetic evaluation.
The condition is inherited in an autosomal recessive manner. Both parents are usually carriers, each contributing one defective allele. Siblings have a 25 % chance of being affected, a 50 % chance of being carriers, and a 25 % chance of being unaffected. Carrier testing can be offered to relatives.
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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