DNA2 Antibody – Rabbit Polyclonal

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]

DNA2: Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double- strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)- dependent ATPase, 5'-3' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate. According to various reports, the helicase activity is weak and its function remains largely unclear. Helicase activity may promote the motion of DNA2 on the flap, helping the nuclease function. Belongs to the DNA2/NAM7 helicase family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.6.4.12; Helicase

Chromosomal Location of Human Ortholog: 10q21.3-q22.1

Cellular Component: gamma DNA polymerase complex; nuclear chromosome, telomeric region; nucleoplasm; nucleus

Molecular Function: 4 iron, 4 sulfur cluster binding; 5'-3' DNA helicase activity; 5'-flap endonuclease activity; ATP binding; ATPase activity; DNA binding; DNA helicase activity; helicase activity; metal ion binding; nuclease activity; protein binding; single-stranded DNA-dependent ATPase activity; site-specific endodeoxyribonuclease activity, specific for altered base

Biological Process: base-excision repair; DNA double-strand break processing; DNA duplex unwinding; DNA replication; DNA replication checkpoint; DNA replication, Okazaki fragment processing; DNA replication, removal of RNA primer; DNA synthesis during DNA repair; mitochondrial DNA repair; mitochondrial DNA replication; positive regulation of DNA replication; strand displacement; telomere maintenance; telomere maintenance via recombination

Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 6; Seckel Syndrome 8