RNASEH1, Official Symbol RNASEH1provided by HGNC Official Full Name ribonuclease H1provided by HGNC Primary source HGNC:HGNC:18466 See related Ensembl:ENSG00000171865 MIM:604123; AllianceGenome:HGNC:18466 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RNH1; H1RNA; PEOB2 Summary This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in brain (RPKM 5.7), endometrium (RPKM 5.6) and 25 other tissues See more Orthologs mouse all