Gene: DNA2

Alternate names for this Gene: DNA2L|hDNA2

Gene Summary: This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.3

Description of this Gene: DNA replication helicase/nuclease 2

Type of Gene: protein-coding

rs10998203 in DNA2 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs760412883 in DNA2 gene and PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 PMID 23352259 2013 Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.