DISEASES

Disease-gene associations mined from literature

Literature on EXD2

EXD2 [ENSP00000313140]

Exonuclease 3'-5' domain-containing protein 2; Exonuclease that has both 3'-5' exoribonuclease and exodeoxyribonuclease activities, depending on the divalent metal cation used as cofactor . In presence of Mg(2+), only shows 3'-5' exoribonuclease activity, while it shows both exoribonuclease and exodeoxyribonuclease activities in presence of Mn(2+) . Acts as an exoribonuclease in mitochondrion, possibly by regulating ATP production and mitochondrial translation . Also involved in the response to DNA damage . Acts as 3'- 5' exodeoxyribonuclease for double-strand breaks resection and efficient homologous recombination . Plays a key role in controlling the initial steps of chromosomal break repair, it is recruited to chromatin in a damage-dependent manner and functionally interacts with the MRN complex to accelerate resection through its 3'-5' exonuclease activity, which efficiently processes double-stranded DNA substrates containing nicks . Also involved in response to replicative stress: recruited to stalled forks and is required to stabilize and restart stalled replication forks by restraining excessive fork regression, thereby suppressing their degradation . ECO:0000269|PubMed:26807646, ECO:0000269|PubMed:29335528,

Synonyms:  EXD2,  EXD2p,  hEXD2,  C9JLF4,  Q9NVH0 ...

Linkouts:  STRING  Pharos  UniProt