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GENATLAS PHENOTYPE |
last update : 22-08-2014 |
Symbol | AGS1 |
Location | 3p21.31 |
HGNC id | 332 |
Name | Aicardi-Goutieres syndrome 1 |
Corresponding gene | TREX1 |
Other symbol(s) | AICG |
Main clinical features |
|
Genetic determination | autosomal recessive |
Related entries | including Cree encephalitis |
Function/system disorder | mental retardation |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
| abnormal protein/loss of function
| results in the triggering of an abnormal innate immune response
| |
Remark(s) | . RNA interference can be used to inhibit the over-production of cathepsin D that occurs in AGS1 lymphocytes in the presence of interferon alpha, attenuating innate immune activation and neurotoxicity (PMID: 23261460)) |