| RNASEH2C — Ribonuclease H2 Subunit C | |
|---|---|
| Symbol | RNASEH2C |
| Full Name | Ribonuclease H2 Subunit C |
| Chromosome | 17q11.2 |
| NCBI Gene | 84154 |
| Ensembl | ENSG00000137708 |
| OMIM | 610297 |
| UniProt | Q9Y3X0 |
| Diseases | [Aicardi-Goutières Syndrome](/diseases/aicardi-goutieres-syndrome) |
| Expression | Ubiquitously expressed; high expression in brain, heart, muscle |
RNASEH2C (Ribonuclease H2 Subunit C) is a gene located on chromosome 17q11.2 that encodes the smallest subunit of the RNase H2 complex. This protein plays a supporting role in the assembly and function of the RNase H2 enzyme, which is critical for DNA repair by removing misincorporated ribonucleotides from genomic DNA. Mutations in RNASEH2C cause Aicardi-Goutières syndrome (AGS), a severe early-onset neurodevelopmental disorder [1].
The RNASEH2C gene spans approximately 4 kb and consists of 4 exons. The gene encodes a 164-amino acid protein that functions as a structural component of the RNase H2 complex.
The RNase H2 complex is composed of three subunits:
RNASEH2C is a small protein with:
RNASEH2C mutations account for approximately 5-10% of AGS cases. Clinical features include:
Pathogenic variants identified:
RNASEH2C is ubiquitously expressed with highest levels in:
Treatment approaches for RNASEH2C-related AGS: