Ribonuclease H2 Untereinheit C
Das RNASEH2C-Gen kodiert eine Untereinheit eines Enzyms, welches spezielle Ribonukleotide spaltet. Mutationen sind für das autosomal rezessive Aicardi-Goutières-Syndrom 3 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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3. |
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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4. |
Zimmermann M et al. (2018) CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
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5. |
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: 14. August 2020