domingo, 5 de abril de 2015

EMG1 - EMG1 N1-specific pseudouridine methyltransferase - Genetics Home Reference

EMG1 - EMG1 N1-specific pseudouridine methyltransferase - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions



EMG1

What is the official name of the EMG1 gene?

The official name of this gene is “EMG1 N1-specific pseudouridine methyltransferase.”
EMG1 is the gene's official symbol. The EMG1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.

What is the normal function of the EMG1 gene?

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.

How are changes in the EMG1 gene related to health conditions?


Bowen-Conradi syndrome - caused by mutations in the EMG1 gene
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 EMG1gene mutations lead to the particular signs and symptoms of Bowen-Conradi syndrome.

Where is the EMG1 gene located?

Cytogenetic Location: 12p13.3
Molecular Location on chromosome 12: base pairs 6,970,780 to 6,976,002
The EMG1 gene is located on the short (p) arm of chromosome 12 at position 13.3.
The EMG1 gene is located on the short (p) arm of chromosome 12 at position 13.3.
More precisely, the EMG1 gene is located from base pair 6,970,780 to base pair 6,976,002 on chromosome 12.

Where can I find additional information about EMG1?

You and your healthcare professional may find the following resources about EMG1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the EMG1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding EMG1?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (8 links)



The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook

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