SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Normal Function
Health Conditions Related to Genetic Changes
Aicardi-Goutières syndrome
Variants (also called mutations) in the SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. Research suggests that variants in this gene may lead to the production of a SAMHD1 enzyme that does not properly regulate the amount of available dNTPs. This impairs DNA maintenance and allows DNA damage to accumulate in cells. Research suggests that this DNA damage may lead to cell signaling that inappropriately activates an immune response. As a result, the immune system attacks the body's own tissues and organs, causing inflammatory damage that 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 SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. Research suggests that variants in this gene may lead to the production of a SAMHD1 enzyme that does not properly regulate the amount of available dNTPs. This impairs DNA maintenance and allows DNA damage to accumulate in cells. Research suggests that this DNA damage may lead to cell signaling that inappropriately activates an immune response. As a result, the immune system attacks the body's own tissues and organs, causing inflammatory damage that leads to the signs and symptoms of Aicardi-Goutières syndrome.