LSM11
LSM11, U7 small nuclear RNA associated
Normal Function
Health Conditions Related to Genetic Changes
Aicardi-Goutières syndrome
Variants (also called mutations) in the LSM11 gene have been found to be a rare cause of 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 LSM11 gene variants lead to the production of an abnormal U7 snRNP complex that cannot properly process the pre-mRNA of histone proteins. Abnormal processing of histone pre-mRNA can interfere with DNA replication and cause the cell to produce RNA and DNA fragments. Research suggests that these fragments can accumulate and trigger an immune response, which causes the immune system to attack 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 LSM11 gene have been found to be a rare cause of 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 LSM11 gene variants lead to the production of an abnormal U7 snRNP complex that cannot properly process the pre-mRNA of histone proteins. Abnormal processing of histone pre-mRNA can interfere with DNA replication and cause the cell to produce RNA and DNA fragments. Research suggests that these fragments can accumulate and trigger an immune response, which causes the immune system to attack the body's own tissues and organs. This immune response leads to the signs and symptoms of Aicardi-Goutières syndrome.