Ribonuclease H2 subunit C
The RNASEH2C gene encodes a subunit of an emzyme that cleaves specific nucleotides. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 3.
Genetests:
Related Diseases:
References:
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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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Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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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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Zimmermann M et al. (2018) CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
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Hiller B et al. (2012) Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity.
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6. |
Vogt J et al. (2013) Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.
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Update: Aug. 14, 2020