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From NCBI Gene:
This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and is necessary for DNA replication and repair. This enzyme is present in both mitochondria and nuclei, which are resulted from translation of a single mRNA with two in-frame initiation start codons. The use of the first start codon produces the mitochondrial isoform and the use of the second start codon produces the nuclear isoform. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF) which overlaps the first initiation start codon in human. An alternately spliced transcript variant has been found which encodes a shorter isoform. This gene has three pseudogenes; two of them are at different locations of chromosome 17 and one of them is on chromosome 1q32.2. [provided by RefSeq, Sep 2014]
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).
Covered on Genetics Home Reference:
From NCBI Gene:
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
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. [MIM:616479]