RNASEH2A ribonuclease H2 subunit A
Gene ID: 10535, updated on 30-Mar-2024Gene type: protein coding
Also known as: AGS4; JUNB; RNHL; RNHIA; RNASEHI
- See all available tests in GTR for this gene
- Go to complete Gene record for RNASEH2A
- Go to Variation Viewer for RNASEH2A variants
Summary
The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aicardi-Goutieres syndrome 4 | See labs |
Genomic context
- Location:
- 19p13.13
- Sequence:
- Chromosome: 19; NC_000019.10 (12806584..12813640)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RNASEH2A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RNASEH2A @ LOVD
- Variation ViewerRelated Variants
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