Ribonuclease H2 subunit B
The RNASEH2B gene encodes a subunit of an emzyme that cleaves specific nucleotides. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 2.
Genetests:
Related Diseases:
References:
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Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
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2. |
Crow YJ et al. (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
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3. |
Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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4. |
Kind B et al. (2014) Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
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5. |
Zimmermann M et al. (2018) CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
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Update: Aug. 14, 2020