ribonuclease H2 subunit B

The RNASEH2B 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.

At least 20 mutations in the RNASEH2B 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.

Cytogenetic Location: 13q14.3, which is the long (q) arm of chromosome 13 at position 14.3

Molecular Location: base pairs 50,909,678 to 50,970,462 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q14.3, which is the long (q) arm of chromosome 13 at position 14.3
  • AGS2
  • Aicardi-Goutieres syndrome 2 protein
  • deleted in leukemia 8 protein
  • deleted in lymphocytic leukemia 8
  • DLEU8
  • FLJ11712
  • ribonuclease H2 subunit B isoform 1
  • ribonuclease H2 subunit B isoform 2
  • ribonuclease H2, subunit B
  • ribonuclease HI subunit B
  • RNase H2 subunit B