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Normal Function
The LSM11 gene provides instructions for making one piece (subunit) of a group of proteins called 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 to 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 LSM11 gene have been found to be a rare cause of 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 LSM11 gene variants lead to the production of an abnormal U7 snRNP complex that cannot properly process the pre-mRNA of histone proteins. Abnormal processing of histone pre-mRNA can interfere with DNA replication and cause the cell to produce RNA and DNA fragments. Research suggests that these fragments can accumulate and trigger an immune response, which causes the immune system to attack the body's own tissues and organs. This immune response leads to the signs and symptoms of Aicardi-Goutières syndrome.
More About This Health ConditionOther Names for This Gene
- AGS8
- FLJ38273
- U7 SnRNA-Associated Sm-Like Protein LSm11
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
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
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