RNASEH2C
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| Aliases | RNASEH2C, AGS3, AYP1, ribonuclease H2 subunit C | ||||||||||||||||
| External IDs | MGI: 1915459 HomoloGene: 32666 GeneCards: RNASEH2C | ||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||
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| Location (UCSC) | Chr 11: 65.71 – 65.72 Mb | Chr 19: 5.6 – 5.6 Mb | |||||||||||||||
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Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C), and degrades the RNA of RNA:DNA hybrids.
Mutations in this gene are a cause of Aicardi-Goutieres syndrome type 3 (AGS3).
This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene.
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