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RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. De plus, nous expédions Ribonuclease H2, Subunit B Protéines (6) et beaucoup plus de produits pour cette protéine.
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This study reviewed that Neurologic Phenotypes Associated with Mutations in RNASEH2B in patients with Aicardi-Goutieres Syndrome.
Aicardi-Goutieres syndrome 2 is caused by mutations in the ribonuclease H2 subunit B gene RNASEH2B.
RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner.
A genome-wide search for homozygosity in Aicardi-Goutieres syndrome patients in the Faroe Islands revealed one single 15.6 Mb region of homozygosity on chromosome 13, which included RNASEH2B, where a splice site mutation c.322-3C>G was identified.
This study demonistrated that ribonuclease H2 mutation releated to Aicardi-Goutieres syndrome.
Congenital infection is seen with preserved neurological function, most frequently due to RNASEH2B mutations.
Examination of the effect of several Aicardi-Goutieres Syndrome-related mutations in the B subunit of RNase H2.
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response
Recent evidence gathered from ribonuclease H2 knock-out mice provides insight into the molecular mechanisms underlying Aicardi-Goutieres syndrome development and a potential role of DNA damage as a trigger of autoimmunity is discussed. [review]
Study performed targeted mutagenesis of the mouse Rnaseh2b gene to gain insight into the in vivo role of the mammalian RNase H2 enzyme. Ablation of Rnaseh2b in mice leads to early embryonic lethality due to elevated DNA damage and reduced cellular proliferation during gastrulation.
Data show that the interwoven architecture of RNase H2B and RNase H2C (Montrer RNASEH2C Anticorps) that interface with RNase H2A (Montrer RNASEH2A Anticorps) in a complex ideally suited for nucleic acid binding and hydrolysis coupled to protein-protein interaction motifs.
RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2).
Aicardi-Goutieres syndrome 2 protein
, RNase H2 subunit B
, deleted in lymphocytic leukemia 8
, ribonuclease H2 subunit B
, ribonuclease HI subunit B
, deleted in lymphocytic leukemia 8 homolog