| Modification Notes |
TREX-1 (three prime repair exonuclease 1), also known as trophoblast expressed 1, CRV, AGS1, AGS5, DRN3, HERNS or DNase III, is a member of the exonuclease superfamily and belongs to the TREX family. Members of the TREX family are involved in DNA metabolism and repair. TREX-1 is expressed in spleen, liver, thymus, colon, heart, brain and small intestine. It localizes to the nucleus and exists as a homodimer. TREX-1 is an exonuclease and its activity requires magnesium as a cofactor. TREX-1 has a preference for double stranded DNA and functions in the 3’-5’ direction yielding nucleoside 5’-phosphates. TREX-1 also interacts with the SET complex (an endoplasmic reticulum (ER)-associated complex) and participates in granzyme A-mediated apoptosis. Mutations or defects in the gene encoding TREX-1 have been associated with a variety of diseases, including systemic lupus erythematosus, chilblain lupus (CHBL), Aicardi-Goutieres syndrome type 1 (AGS1) and type 5 (AGS5) and autosomal dominant retinal vasculopathy with cerebral leukodystrophy (CRV). |