Gene Symbol | DNA2 |
Entrez Gene ID | 1763 |
Full Name | DNA replication helicase/nuclease 2 |
Synonyms | DNA2L,hDNA2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Sep 2014]. |
Disorder MIM: | |
Disorder Html: | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3); ?Seckel syndrome 8, 615807 (3) |