SIGN IN YOUR ACCOUNT TO HAVE ACCESS TO DIFFERENT FEATURES

FORGOT YOUR PASSWORD?

FORGOT YOUR DETAILS?

AAH, WAIT, I REMEMBER NOW!
24/7 HELPLINE (903) 212-7500
  • PATIENT PORTAL LOGIN

PhyNet Health PhyNet Health

  • Home
  • Find a Clinic
    • Hughes Springs, TX
    • Longview, TX
    • Jefferson, TX
    • Kilgore, TX
    • Lindale, TX
    • Linden, TX
    • Gladewater, TX
    • Lone Star, TX
    • Tatum, TX
    • Marshall, TX
  • Health Services
    • Primary Care Services
    • Physical Therapy / Rehab
    • Allergy Testing & Treatment
    • Chronic Care Management
    • Remote Monitoring Program
    • Virtual Visit
  • Resources
    • MedlinePlus Wiki
      • Health Topics
    • Home Health Coordination
    • Transitions of Care
    • Insurance Help
  • About Phynet
    • About Phynet
    • PhyNet News
    • Better Together Stories
    • Careers
  • Billing

Health Topics

Skip navigation

An official website of the United States government

Here’s how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( Lock Locked padlock icon ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

National Institutes of Health National Library of Medicine
MedlinePlus Trusted Health Information for You
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
  • About MedlinePlus
  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Health Topics
  • Drugs & Supplements
  • Genetics
  • Medical Tests
  • Medical Encyclopedia
You Are Here:
Home →
Genetics →
Genes →
RNU7-1 gene
URL of this page: https://medlineplus.gov/genetics/gene/rnu7-1/

RNU7-1 gene

RNA, U7 small nuclear 1

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, the U7 snRNP complex plays an important role in processing molecules called messenger RNA (mRNA), which serve as the genetic blueprints for making proteins. The mRNA starts out as a molecule called pre-mRNA and must go through several processing steps before it is ready to make a protein. The U7 snRNP complex helps process pre-mRNA. Specifically, the U7 snRNP complex targets the pre-mRNA of proteins called histones. Histones are structural proteins that attach (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 (also called mutations) in the RNU7-1 gene have been found to cause Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and other health problems.

It is likely that RNU7-1 gene variants cause the cell to produce a U7 snRNP complex that cannot properly process the pre-mRNA of histone proteins. If histone pre-mRNA is not processed correctly, RNA and DNA fragments can build up in cells during DNA replication. Research suggests that this buildup of fragments can trigger an immune response that attacks the body's own tissues and organs. This immune response leads to the signs and symptoms of Aicardi-Goutières syndrome.

More About This Health Condition

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

  • Tests of RNU7-1 From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

Catalog of Genes and Diseases from OMIM

  • RNA, U7 SMALL NUCLEAR, 1; RNU7-1

Gene and Variant Databases

  • NCBI Gene From the National Institutes of Health
  • ClinVar From the National Institutes of Health

References

  • Liu A, Ying S. Aicardi-Goutieres syndrome: A monogenic type I interferonopathy. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 Jul 29. Citation on PubMed
  • Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D; Program for Undiagnosed Rare Diseases (UD-PrOZA); Hoste L, Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F. Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutieres Syndrome with Severe End-Organ Involvement. J Clin Immunol. 2022 Jul;42(5):962-974. doi: 10.1007/s10875-022-01209-5. Epub 2022 Mar 23. Citation on PubMed
  • Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Fremond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldan A, Garcia-Perez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenco CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Citation on PubMed
DNA helix

Genomic Location

The RNU7-1 gene is found on chromosome 12.

Related Health Topics

  • Genes and Gene Therapy
  • Genetic Disorders

MEDICAL ENCYCLOPEDIA

  • Genes
  • Genetics

Understanding Genetics

  • What is DNA?
  • What is a gene?
  • What is a gene variant and how do variants occur?

Disclaimers

MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. MedlinePlus also links to health information from non-government Web sites. See our disclaimer about external links and our quality guidelines.

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.

  • About MedlinePlus
  • What's New
  • Site Map
  • Customer Support
  • Subscribe to RSSRSS
  • Connect with NLM
  • NLM Web Policies
  • Copyright
  • Accessibility
  • Guidelines for Links
  • Viewers & Players
  • HHS Vulnerability Disclosure
  • MedlinePlus Connect for EHRs
  • For Developers
National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National Institutes of Health
Last updated September 26, 2024
Return to top

Patients

  • Find a Clinic
  • Health Services
  • Complex Case Management
  • MA / Medicare Assistance

Quick Links

  • Billing Information
  • Careers
  • About Phynet
  • PhyNet News

Network Links

  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com

Home Office

4002 Technology Center Longview TX 75605
Phone: (903) 247-0484
Fax: (903) 247-0485
[email protected]
  • PrimeCareHomeHealth.com
  • PrimeCareNet.com
  • PrimeCareManagers.com
  • Core-Rehab.com
  • GET SOCIAL

© 2021 PhyNet Health • All rights reserved
YOUR LIFE. YOUR CHOICE.

TOP