RNASEH1
Description
The RNASEH1 (ribonuclease H1) is a protein-coding gene located on chromosome 2.
Ribonuclease H1, also known as RNase H1, is an enzyme encoded by the RNASEH1 gene in humans. It is a non-specific endonuclease that catalyzes the cleavage of RNA via a hydrolytic mechanism.
RNase H1 degrades the RNA component of RNA-DNA hybrids (PubMed:10497183). It also 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).
RNASEH1 is also known as H1RNA, PEOB2, RNH1.
Associated Diseases
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2