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EMG1 gene

EMG1, N1-specific pseudouridine methyltransferase
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Normal Function

The EMG1 gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the nucleolus.

The EMG1 protein is involved in the assembly of a part of the ribosome called the small subunit (SSU). In this role, the EMG1 protein functions as part of a protein complex called the SSU processome. In addition to helping to assemble the SSU, the SSU processome is involved in the maturation of a molecule called 18S rRNA, which is a chemical cousin of DNA that is incorporated into the SSU.

Health Conditions Related to Genetic Changes

Bowen-Conradi syndrome

An EMG1 gene mutation common in the Hutterite population of the United States and Canada causes Bowen-Conradi syndrome, a disorder that affects many parts of the body and is usually fatal in the first few months of life. The mutation that causes Bowen-Conradi syndrome, written as Asp86Gly or D86G, changes the protein building block (amino acid) aspartic acid to the amino acid glycine at position 86 in the EMG1 protein. Studies suggest that the mutation makes the protein unstable, resulting in a decrease in the amount of EMG1 protein that is available in the nucleolus. A shortage of this protein in the nucleolus would impair ribosome production, which may reduce cell growth and division (proliferation); however, it is unknown how EMG1 gene mutations lead to the particular signs and symptoms of Bowen-Conradi syndrome.

More About This Health Condition

Other Names for This Gene

  • 18S rRNA (pseudouridine(1248)-N1)-methyltransferase
  • 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1
  • 18S rRNA Psi1248 methyltransferase
  • C2F
  • EMG1 N1-specific pseudouridine methyltransferase
  • EMG1 nucleolar protein homolog
  • essential for mitotic growth 1
  • Grcc2f
  • NEP1
  • NEP1_HUMAN
  • ribosomal RNA small subunit methyltransferase NEP1
  • ribosome biogenesis protein NEP1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B. Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet. 2009 Jun;84(6):728-39. doi: 10.1016/j.ajhg.2009.04.017. Epub 2009 May 21. Citation on PubMed or Free article on PubMed Central
  • Armistead J, Patel N, Wu X, Hemming R, Chowdhury B, Basra GS, Del Bigio MR, Ding H, Triggs-Raine B. Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression. Biochim Biophys Acta. 2015 May;1852(5):1029-37. doi: 10.1016/j.bbadis.2015.02.007. Epub 2015 Feb 20. Citation on PubMed
  • Armistead J, Triggs-Raine B. Diverse diseases from a ubiquitous process: the ribosomopathy paradox. FEBS Lett. 2014 May 2;588(9):1491-500. doi: 10.1016/j.febslet.2014.03.024. Epub 2014 Mar 19. Review. Citation on PubMed
  • Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. Citation on PubMed
  • Sondalle SB, Baserga SJ. Human diseases of the SSU processome. Biochim Biophys Acta. 2014 Jun;1842(6):758-64. doi: 10.1016/j.bbadis.2013.11.004. Epub 2013 Nov 12. Review. Citation on PubMed or Free article on PubMed Central
  • Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kötter P, Engels JW, Heckel A, Karas M, Entian KD, Wöhnert J. The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase. Nucleic Acids Res. 2010 Apr;38(7):2387-98. doi: 10.1093/nar/gkp1189. Epub 2010 Jan 4. Citation on PubMed or Free article on PubMed Central
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