AGO4 gene

Last updated on: 05.07.2024

Dieser Artikel auf Deutsch

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

The AGO4 gene (AGO4 stands for: Argonaute RISC Component 4) is a protein-coding gene located on chromosome 1p34.3. The AGO4 gene encodes a member of the Argonaute family of proteins that contain PAZ and PIWI domains and play an essential role in RNA interference and short interfering RNA-mediated gene silencing. An important paralog of this gene is AGO1.

PathophysiologyThis section has been translated automatically.

The AGO4 gene is located on chromosome 1 in a group of related family members. Humans have four AGO proteins, AGO1, AGO2, AGO3 and AGO4, which have high sequence identity. Since most miRNAs are found in the four AGOs, it was assumed that they function redundantly. Nevertheless, more and more studies have shown that the other paralogs play a unique role in various biological processes and diseases (Nakanishi K 2022).

LiteratureThis section has been translated automatically.

  1. Bonafe L (2002) RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61: 146-151
  2. Makitie O (2001) Increased mortality in cartilage-hair hypoplasia. Arch Dis Child 84: 65-67
  3. Nakanishi K (2022) Anatomy of four human Argonaute proteins. Nucleic Acids Res 50:6618-6638.
  4. Ridanpaa M et al. (2002) Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin o the major 70A-G muatation of untranslated RMPR. Eur J Hum Gent 10: 439-447
  5. Vakkilainen S et al.(2020) Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management. Scand J Immunol 92:e12913.

Last updated on: 05.07.2024