| 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 |
| 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:
Crow YJ, Chase DS, Lowenstein Schmidt J, et al. "Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1." American Journal of Medical Genetics Part A. 2015;167(2):296-312. DOI:10.1002/ajmg.a.36887
Reijns MA, Bubeck D, Gibson LC, et al. "The structure of the human RNase H2 complex defines the molecular basis for Aicardi-Goutières syndrome." Nature Structural & Molecular Biology. 2011;18(9):1006-1014. DOI:10.1038/nsmb.2093
Livingston JH, Shenoy A, Lin JP, et al. "RNASEH2C mutations: expanding the phenotype of Aicardi-Goutières syndrome." American Journal of Medical Genetics Part A. 2014;164(10):2649-2654. DOI:10.1002/ajmg.a.36673