Gene: RNASEH2C

Alternate names for this Gene: AGS3|AYP1

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: ribonuclease H2 subunit C

Type of Gene: protein-coding

rs75328625 in RNASEH2C gene and AICARDI-GOUTIERES SYNDROME 3 PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

PMID 23322642 2013 Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

PMID 29150899 2018 p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

rs12576766 in RNASEH2C gene and Uric acid measurement (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.