Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Autoimmune Diseases of the Nervous System / genetics*
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Chilblains / genetics*
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Exodeoxyribonucleases / genetics*
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Hereditary Central Nervous System Demyelinating Diseases / genetics*
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Humans
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Lupus Erythematosus, Cutaneous / genetics*
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Lupus Erythematosus, Systemic / genetics*
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Mutation
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Nervous System Malformations / genetics*
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Phenotype
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Phosphoproteins / genetics*
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Retinal Diseases / genetics*
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Vascular Diseases / genetics*
Substances
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Phosphoproteins
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Exodeoxyribonucleases
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three prime repair exonuclease 1
Supplementary concepts
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Aicardi-Goutieres syndrome
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Chilblain lupus 1
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Vasculopathy, Retinal, With Cerebral Leukodystrophy