RNASEH1
Function
Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224).
Involvement in disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
PEOB2
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the RNase H family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cytoplasm
Alternative names
RNH1, RNASEH1, Ribonuclease H1, RNase H1, Ribonuclease H type II