Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.
基因功能參考文獻(xiàn):
Results implicate rare variants in the Aicardi-Goutieres syndrome genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis, consistent with a genetic basis underlying inflammation-driven malignant transformation in glioma and prostate carcinoma development. PMID: 29030706
This study reviewed that Neurologic Phenotypes Associated with Mutations in RNASEH2B in patients with Aicardi-Goutieres Syndrome. PMID: 27643693
Aicardi-Goutieres syndrome 2 is caused by mutations in the ribonuclease H2 subunit B gene RNASEH2B. PMID: 25906927
RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner. PMID: 24986920
A genome-wide search for homozygosity in Aicardi-Goutieres syndrome patients in the Faroe Islands revealed one single 15.6 Mb region of homozygosity on chromosome 13, which included RNASEH2B, where a splice site mutation c.322-3C>G was identified. PMID: 22882256
This study demonistrated that ribonuclease H2 mutation releated to Aicardi-Goutieres syndrome. PMID: 21862834
Congenital infection is seen with preserved neurological function, most frequently due to RNASEH2B mutations. PMID: 18422679
Examination of the effect of several Aicardi-Goutieres Syndrome-related mutations in the B subunit of RNase H2. PMID: 19015152
patients with genetic deficiency develop the spontaneous inflammatory myocarditis PMID: 19120481