DNASE2 Antibody, Biotin conjugated

1. Study identifies biallelic mutations in DNASE2, associated with a loss of DNase II endonuclease activity causing type I interferonopathy in three patients from two unrelated families. PMID: 29259162
2. 15 nonsynonymous human DNase II SNPs were genotyped in three ethnic groups including 16 different populations using the PCR-restriction fragment length polymorphism technique. PMID: 24242851
3. study demonstrated the relationship of genotypes/haplotypes with the in vivo DNase II and promoter activities; significant correlations between genotype in each rheumatoid arthritis (RA)-related SNP and enzymatic activity levels were found; alleles associated with RA exhibited a reduction in serum DNase II activity. PMID: 23019102
4. upregulation of expression during myelomonocytic differentiation of HL-60 and THP-1 cells PMID: 12147225
5. Sp1 and Sp3 are involved in up-regulation of this enzyme's transcriptoin during cell differentiation of hl-60 cells. PMID: 12694199
6. the enzyme is a monomeric phospholipase D-family member with a pseudodimeric protein fold PMID: 17192590
7. The association of SNPs in the 5'-regulatory region of the DNA degrading enzyme DNASE2 with Rheumatoid Arthritis implies a role for this enzyme in the pathogenesis of this autoimmune disease. PMID: 18812394

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HGNC: 2960

OMIM: 126350

KEGG: hsa:1777

STRING: 9606.ENSP00000222219

UniGene: Hs.118243