Ribonuclease H2 Subunit B (RNASEH2B)

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. RNASEH2B 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).

By genomewide linkage analysis of 10 families with Aicardi-Goutieres syndrome in whom linkage to AGS1 was excluded, Ali et al. (2006) identified a putative disease locus, termed AGS2, on chromosome 13q14-q21 (maximum multipoint lod score of 5.75 at marker D13S768). The AGS2 locus lies within a 4.7-cM region between D13S284 and D13S1309.