DNASE1, Official Symbol DNASE1provided by HGNC Official Full Name deoxyribonuclease 1provided by HGNC Primary source HGNC:HGNC:2956 See related Ensembl:ENSG00000213918 MIM:125505; AllianceGenome:HGNC:2956 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNL1; DRNI Summary This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 12.9), duodenum (RPKM 11.9) and 25 other tissues See more Orthologs mouse all