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RNASEH2C

RNASEH2C

Reviewed July 2010

What is the official name of the RNASEH2C gene?

The official name of this gene is “ribonuclease H2, subunit C.”

RNASEH2C is the gene's official symbol. The RNASEH2C 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 RNASEH2C gene?

The RNASEH2C gene provides instructions for making one part (subunit) of a group of proteins called the RNase H2 complex. This complex is a ribonuclease, which means it is an enzyme that helps break down RNA, a chemical cousin of DNA. In particular, the RNase H2 complex helps break down molecules in which one strand of RNA is combined with one strand of DNA (RNA-DNA hybrids). These hybrids are formed during DNA copying (replication) and are found in all cells.

The RNase H2 complex is involved in DNA replication, error repair, and other cellular functions. Researchers believe that these additional functions may include helping to prevent inappropriate immune system activation.

How are changes in the RNASEH2C gene related to health conditions?

Aicardi-Goutieres syndrome - caused by mutations in the RNASEH2C gene

At least six mutations in the RNASEH2C gene have been identified in people with Aicardi-Goutieres syndrome. These mutations likely result in a dysfunctional RNase H2 complex. The resulting disruption in cellular functions may lead to an accumulation of unneeded DNA and RNA in cells. These DNA and RNA molecules or fragments may be generated during the first stage of protein production (transcription), replication of cells' genetic material in preparation for cell division, DNA repair, cell death, and other processes. The unneeded DNA and RNA may be mistaken by cells for those of viral invaders, triggering immune system reactions that cause severe brain dysfunction (encephalopathy), skin lesions, and other signs and symptoms of Aicardi-Goutieres syndrome.

Where is the RNASEH2C gene located?

Cytogenetic Location: 11q13.1

Molecular Location on chromosome 11: base pairs 65,717,672 to 65,720,937

The RNASEH2C gene is located on the long (q) arm of chromosome 11 at position 13.1.

The RNASEH2C gene is located on the long (q) arm of chromosome 11 at position 13.1.

More precisely, the RNASEH2C gene is located from base pair 65,717,672 to base pair 65,720,937 on chromosome 11.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about RNASEH2C?

You and your healthcare professional may find the following resources about RNASEH2C 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 RNASEH2C gene or gene products?

  • AGS3
  • aicardi-Goutieres syndrome 3 protein
  • AYP1
  • FLJ20974
  • MGC22934
  • ribonuclease H2 subunit C
  • ribonuclease HI subunit C
  • RNase H1 small subunit
  • RNase H2 subunit C
  • RNH2C_HUMAN

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 RNASEH2C?

cell ; cell division ; DNA ; DNA repair ; DNA replication ; encephalopathy ; enzyme ; gene ; immune system ; protein ; RNA ; stage ; subunit ; syndrome ; transcription

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 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.

 
Reviewed: July 2010
Published: November 24, 2014