Gene: DNASE1

Alternate names for this Gene: DNL1|DRNI

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: deoxyribonuclease 1

Type of Gene: protein-coding

Gene: TRAP1

Alternate names for this Gene: HSP 75|HSP75|HSP90L|TRAP-1

Gene Summary: This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: TNF receptor associated protein 1

Type of Gene: protein-coding

rs1053874 in DNASE1;TRAP1 gene and Body mass index PMID 29273807 2018 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

rs8176919 in DNASE1;TRAP1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.