DNASE1

Chr 16AD

deoxyribonuclease 1

NCBI Gene: 1773 ENSG00000213918 UniProt: P24855 OMIM: 125505

The protein is a serum endonuclease that cleaves DNA and degrades neutrophil extracellular traps to prevent clot formation during inflammation. Mutations cause systemic lupus erythematosus, an autoimmune disease with autosomal codominant inheritance. The gene shows extremely low constraint against loss-of-function variants, suggesting tolerance to reduced protein levels.

OMIM ResearchSummary from RefSeq, UniProt

Serum endocuclease secreted into body fluids by a wide variety of exocrine and endocrine organs (PubMed:11241278, PubMed:2251263, PubMed:2277032). Expressed by non-hematopoietic tissues and preferentially cleaves protein-free DNA (By similarity). Among other functions, seems to be involved in cell death by apoptosis (PubMed:11241278). Binds specifically to G-actin and blocks actin polymerization (By similarity). Together with DNASE1L3, plays a key role in degrading neutrophil extracellular traps (NETs) (By similarity). NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Degradation of intravascular NETs by DNASE1 and DNASE1L3 is required to prevent formation of clots that obstruct blood vessels and cause organ damage following inflammation (By similarity)

OMIM ResearchGenerating clinical summary…