Entity Details

Primary name RNASEH1
Entity type gene
Source Source Link

Details

PrimaryID246243
RefseqGeneNG_051310
SymbolRNASEH1
Nameribonuclease H1
Chromosome2
Location2p25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-06-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRNH1_HUMAN

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004523 RNA-DNA hybrid ribonuclease activity
GO:0004540 ribonuclease activity
GO:0005737 cytoplasm
GO:0006401 RNA catabolic process
GO:0043137 DNA replication, removal of RNA primer
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic

Diseases

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Disease IDSourceNameDescription
616479 OMIMProgressive 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. The disease is caused by variants affecting the gene represented in this entry.