Ribonuclease H2 Subunit C
AYP1
AGS3
Aicardi-Goutieres Syndrome 3 Protein
Ribonuclease HI Subunit C
RNase H1 Small Subunit
RNase H2 Subunit C
Aicardi-Goutieres Syndrome 3
Ribonuclease H2, Subunit C
This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
Forensic Context
A study in human postmortem brain tissue demonstrated that the RNASEH2C mRNA was hypermethylated in the nucleus accumbens of subjects with alcohol use disorder compared to matched controls, with a mean methylation level of 0.287 in cases versus 0.130 in controls [Liu et al. DOI:10.3390/genes13060958]. This finding was part of a broader epitranscriptomic profile revealing 26 hypermethylated and three hypomethylated mRNAs in AUD subjects, with most involved in immune-related pathways.