Human disease phenotypes associated with mutations in TREX1.
Considering that it is a single exon gene encoding a 314 amino acid protein, the genotype-phenotype landscape of TREX1 is remarkably complex. Here we briefly describe the human diseases so-far associated with mutations in TREX1, which include Aicardi-Goutières syndrome, familial chilblain lupus, systemic lupus erythematosus and retinal vasculopathy with cerebral leukodystrophy.
Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Gillian I
GI
Rice
Mathieu P
MP
Rodero
Yanick J
YJ
Crow
D000818:Animals; D020274:Autoimmune Diseases of the Nervous System / Q000235:genetics*; D002647:Chilblains / Q000235:genetics*; D005090:Exodeoxyribonucleases / Q000235:genetics*; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics*; D006801:Humans; D008178:Lupus Erythematosus, Cutaneous / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D009154:Mutation; D009421:Nervous System Malformations / Q000235:genetics*; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D014652:Vascular Diseases / Q000235:genetics*
D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C429526:three prime repair exonuclease 1