Gene Symbol | TREX1 |
Entrez Gene ID | 11277 |
Full Name | three prime repair exonuclease 1 |
Synonyms | AGS1,CRV,DRN3,HERNS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. |
Disorder MIM: | |
Disorder Html: | Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3); Chilblain lupus, 610448 (3); Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3); {Systemic lupus erythematosus, susceptibility to}, 152700 (3) |