| Modification Notes |
RNase HII is a heterotrimeric enzyme complex responsible for the degradation of RNA found in RNA:DNA hybrids and is composed of one catalytic subunit and two non-catalytic subunits. RNase HII-B (ribonuclease H2, subunit B), also known as RNASEH2B, DLEU8, AGS2, FLJ11712 or Aicardi-Goutieres syndrome 2 protein, is one of the non-catalytic subunits of the RNase HII complex. While ubiquitously expressed, RNase HII-B localizes to the nucleus and is 312 amino acids long. Multiple natural transcript variants exist for the RNase HII-B gene. RNase HII-B is likely involved in the removal of RNA primers of lagging strand Okazaki fragments during DNA replication. Defects in the gene encoding RNase HII-B, which maps to human chromosome 13q14.1, are the cause of Aicardi-Goutieres syndrome type 2 (AGS2), an autosomal recessive neurological disorder characterized by leukodystrophy, cerebral atrophy, intracranial calcifications and chronic cerebrospinal fluid (CSF) lymphocytosis. Patients affected by AGS2 have severe neurological dysfunctions and often die in early childhood. |