RNU7-1
RNA, U7 small nuclear 1
Normal Function
Health Conditions Related to Genetic Changes
Aicardi-Goutières syndrome
Variants (also called mutations) in the RNU7-1 gene have been found to cause Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and other health problems.
It is likely that RNU7-1 gene variants cause the cell to produce a U7 snRNP complex that cannot properly process the pre-mRNA of histone proteins. If histone pre-mRNA is not processed correctly, RNA and DNA fragments can build up in cells during DNA replication. Research suggests that this buildup of fragments can trigger an immune response that attacks the body's own tissues and organs. This immune response leads to the signs and symptoms of Aicardi-Goutières syndrome.
More About This Health ConditionRelated Conditions
Aicardi-Goutières syndrome
Health Conditions Related to Genetic Changes
Variants (also called mutations) in the RNU7-1 gene have been found to cause Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and other health problems.
It is likely that RNU7-1 gene variants cause the cell to produce a U7 snRNP complex that cannot properly process the pre-mRNA of histone proteins. If histone pre-mRNA is not processed correctly, RNA and DNA fragments can build up in cells during DNA replication. Research suggests that this buildup of fragments can trigger an immune response that attacks the body's own tissues and organs. This immune response leads to the signs and symptoms of Aicardi-Goutières syndrome.